Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761063_75761064delinsGA , CM000663.2:g.75761063_75761064delinsGA	GRCh38
NC_000001.10:g.76226748_76226749delinsGA , CM000663.1:g.76226748_76226749delinsGA	GRCh37
NC_000001.9:g.75999336_75999337delinsGA	NCBI36
NG_007045.2:g.41706_41707delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.946-59_946-58delinsGA MANE Select	ENSP00000359878.5:n.946-59_946-58delinsGA
ENST00000473018.3:n.3070-59_3070-58delinsGA
ENST00000532207.6:n.1957-59_1957-58delinsGA
ENST00000541113.6:c.850-59_850-58delinsGA	ENSP00000442324.2:n.850-59_850-58delinsGA
ENST00000679509.1:n.1908-59_1908-58delinsGA
ENST00000679530.1:c.714-59_714-58delinsGA	ENSP00000506454.1:n.714-59_714-58delinsGA
ENST00000679615.1:n.2961-59_2961-58delinsGA
ENST00000679687.1:c.508-59_508-58delinsGA	ENSP00000506598.1:n.508-59_508-58delinsGA
ENST00000679704.1:c.712-59_712-58delinsGA	ENSP00000505117.1:n.712-59_712-58delinsGA
ENST00000679709.1:c.909-59_909-58delinsGA	ENSP00000506623.1:n.909-59_909-58delinsGA
ENST00000679976.1:c.530-59_530-58delinsGA	ENSP00000505565.1:n.530-59_530-58delinsGA
ENST00000680166.1:n.4235-59_4235-58delinsGA
ENST00000680315.1:n.829-59_829-58delinsGA
ENST00000680517.1:c.334-59_334-58delinsGA	ENSP00000505803.1:n.334-59_334-58delinsGA
ENST00000680582.1:n.1908-59_1908-58delinsGA
ENST00000680613.1:c.439-59_439-58delinsGA	ENSP00000506114.1:n.439-59_439-58delinsGA
ENST00000680662.1:c.860-59_860-58delinsGA	ENSP00000505080.1:n.860-59_860-58delinsGA
ENST00000680691.1:c.609-59_609-58delinsGA	ENSP00000506487.1:n.609-59_609-58delinsGA
ENST00000680694.1:c.534-59_534-58delinsGA	ENSP00000505658.1:n.534-59_534-58delinsGA
ENST00000680743.1:c.735-59_735-58delinsGA	ENSP00000505073.1:n.735-59_735-58delinsGA
ENST00000680749.1:c.231-59_231-58delinsGA	ENSP00000505122.1:n.231-59_231-58delinsGA
ENST00000680798.1:c.421-59_421-58delinsGA	ENSP00000505670.1:n.421-59_421-58delinsGA
ENST00000680805.1:c.805-59_805-58delinsGA	ENSP00000505447.1:n.805-59_805-58delinsGA
ENST00000680844.1:c.730-59_730-58delinsGA	ENSP00000506541.1:n.730-59_730-58delinsGA
ENST00000680948.1:c.813-59_813-58delinsGA	ENSP00000505441.1:n.813-59_813-58delinsGA
ENST00000680964.1:c.39-59_39-58delinsGA	ENSP00000505961.1:n.39-59_39-58delinsGA
ENST00000681037.1:c.2430-59_2430-58delinsGA	ENSP00000506025.1:n.2430-59_2430-58delinsGA
ENST00000681063.1:c.215-59_215-58delinsGA	ENSP00000506616.1:n.215-59_215-58delinsGA
ENST00000681209.1:c.601-59_601-58delinsGA	ENSP00000505877.1:n.601-59_601-58delinsGA
ENST00000681278.1:n.1648-59_1648-58delinsGA
ENST00000681289.1:n.4941-59_4941-58delinsGA
ENST00000681361.1:c.613-59_613-58delinsGA	ENSP00000506679.1:n.613-59_613-58delinsGA
ENST00000681430.1:c.39-59_39-58delinsGA	ENSP00000506301.1:n.39-59_39-58delinsGA
ENST00000681446.1:c.650-59_650-58delinsGA	ENSP00000506244.1:n.650-59_650-58delinsGA
ENST00000681450.1:c.617-59_617-58delinsGA	ENSP00000505660.1:n.617-59_617-58delinsGA
ENST00000681548.1:c.532-59_532-58delinsGA	ENSP00000505275.1:n.532-59_532-58delinsGA
ENST00000681616.1:c.605-59_605-58delinsGA	ENSP00000505111.1:n.605-59_605-58delinsGA
ENST00000681621.1:c.530-59_530-58delinsGA	ENSP00000505770.1:n.530-59_530-58delinsGA
ENST00000681680.1:n.3041-59_3041-58delinsGA
ENST00000681720.1:c.401-59_401-58delinsGA	ENSP00000505438.1:n.401-59_401-58delinsGA
ENST00000681730.1:n.1168-59_1168-58delinsGA
ENST00000681790.1:c.688-59_688-58delinsGA	ENSP00000505130.1:n.688-59_688-58delinsGA
ENST00000681837.1:n.1562-59_1562-58delinsGA
ENST00000681913.1:n.3192-59_3192-58delinsGA
ENST00000681916.1:c.714-59_714-58delinsGA	ENSP00000506477.1:n.714-59_714-58delinsGA
ENST00000681930.1:n.3070-59_3070-58delinsGA
ENST00000370834.9:c.1045-59_1045-58delinsGA	ENSP00000359871.5:n.1045-59_1045-58delinsGA
ENST00000370841.8:c.946-59_946-58delinsGA	ENSP00000359878.4:n.946-59_946-58delinsGA
ENST00000420607.6:c.958-59_958-58delinsGA	ENSP00000409612.2:n.958-59_958-58delinsGA
ENST00000481374.1:n.219-59_219-58delinsGA
ENST00000525808.5:c.532-59_532-58delinsGA	ENSP00000434823.1:n.532-59_532-58delinsGA
ENST00000526129.5:c.730-59_730-58delinsGA	ENSP00000434092.1:n.730-59_730-58delinsGA
ENST00000526196.5:c.714-59_714-58delinsGA	ENSP00000431953.1:n.714-59_714-58delinsGA
ENST00000528016.1:c.160-8114_160-8113delinsGA	ENSP00000434284.1:n.160-8114_160-8113delinsGA
ENST00000529059.5:n.855-59_855-58delinsGA
ENST00000532207.5:n.676-59_676-58delinsGA
ENST00000534334.5:c.687-59_687-58delinsGA	ENSP00000435584.1:n.687-59_687-58delinsGA
ENST00000541113.5:c.838-59_838-58delinsGA	ENSP00000442324.1:n.838-59_838-58delinsGA
NM_000016.5:c.946-59_946-58delinsGA	NP_000007.1:n.946-59_946-58delinsGA
NM_001127328.2:c.958-59_958-58delinsGA	NP_001120800.1:n.958-59_958-58delinsGA
NM_001286042.1:c.838-59_838-58delinsGA	NP_001272971.1:n.838-59_838-58delinsGA
NM_001286043.1:c.1045-59_1045-58delinsGA	NP_001272972.1:n.1045-59_1045-58delinsGA
NM_001286044.1:c.379-59_379-58delinsGA	NP_001272973.1:n.379-59_379-58delinsGA
NM_000016.6:c.946-59_946-58delinsGA MANE Select	NP_000007.1:n.946-59_946-58delinsGA
NM_001127328.3:c.958-59_958-58delinsGA	NP_001120800.1:n.958-59_958-58delinsGA
NM_001286042.2:c.838-59_838-58delinsGA	NP_001272971.1:n.838-59_838-58delinsGA
NM_001286043.2:c.1045-59_1045-58delinsGA	NP_001272972.1:n.1045-59_1045-58delinsGA
NM_001286044.2:c.379-59_379-58delinsGA	NP_001272973.1:n.379-59_379-58delinsGA

HGVS	Amino-acid change
ENST00000370841.9:c.946-59_946-58delinsGA MANE Select	ENSP00000359878.5:n.946-59_946-58delinsGA
ENST00000473018.3:n.3070-59_3070-58delinsGA
ENST00000532207.6:n.1957-59_1957-58delinsGA
ENST00000541113.6:c.850-59_850-58delinsGA	ENSP00000442324.2:n.850-59_850-58delinsGA
ENST00000679509.1:n.1908-59_1908-58delinsGA
ENST00000679530.1:c.714-59_714-58delinsGA	ENSP00000506454.1:n.714-59_714-58delinsGA
ENST00000679615.1:n.2961-59_2961-58delinsGA
ENST00000679687.1:c.508-59_508-58delinsGA	ENSP00000506598.1:n.508-59_508-58delinsGA
ENST00000679704.1:c.712-59_712-58delinsGA	ENSP00000505117.1:n.712-59_712-58delinsGA
ENST00000679709.1:c.909-59_909-58delinsGA	ENSP00000506623.1:n.909-59_909-58delinsGA
ENST00000679976.1:c.530-59_530-58delinsGA	ENSP00000505565.1:n.530-59_530-58delinsGA
ENST00000680166.1:n.4235-59_4235-58delinsGA
ENST00000680315.1:n.829-59_829-58delinsGA
ENST00000680517.1:c.334-59_334-58delinsGA	ENSP00000505803.1:n.334-59_334-58delinsGA
ENST00000680582.1:n.1908-59_1908-58delinsGA
ENST00000680613.1:c.439-59_439-58delinsGA	ENSP00000506114.1:n.439-59_439-58delinsGA
ENST00000680662.1:c.860-59_860-58delinsGA	ENSP00000505080.1:n.860-59_860-58delinsGA
ENST00000680691.1:c.609-59_609-58delinsGA	ENSP00000506487.1:n.609-59_609-58delinsGA
ENST00000680694.1:c.534-59_534-58delinsGA	ENSP00000505658.1:n.534-59_534-58delinsGA
ENST00000680743.1:c.735-59_735-58delinsGA	ENSP00000505073.1:n.735-59_735-58delinsGA
ENST00000680749.1:c.231-59_231-58delinsGA	ENSP00000505122.1:n.231-59_231-58delinsGA
ENST00000680798.1:c.421-59_421-58delinsGA	ENSP00000505670.1:n.421-59_421-58delinsGA
ENST00000680805.1:c.805-59_805-58delinsGA	ENSP00000505447.1:n.805-59_805-58delinsGA
ENST00000680844.1:c.730-59_730-58delinsGA	ENSP00000506541.1:n.730-59_730-58delinsGA
ENST00000680948.1:c.813-59_813-58delinsGA	ENSP00000505441.1:n.813-59_813-58delinsGA
ENST00000680964.1:c.39-59_39-58delinsGA	ENSP00000505961.1:n.39-59_39-58delinsGA
ENST00000681037.1:c.2430-59_2430-58delinsGA	ENSP00000506025.1:n.2430-59_2430-58delinsGA
ENST00000681063.1:c.215-59_215-58delinsGA	ENSP00000506616.1:n.215-59_215-58delinsGA
ENST00000681209.1:c.601-59_601-58delinsGA	ENSP00000505877.1:n.601-59_601-58delinsGA
ENST00000681278.1:n.1648-59_1648-58delinsGA
ENST00000681289.1:n.4941-59_4941-58delinsGA
ENST00000681361.1:c.613-59_613-58delinsGA	ENSP00000506679.1:n.613-59_613-58delinsGA
ENST00000681430.1:c.39-59_39-58delinsGA	ENSP00000506301.1:n.39-59_39-58delinsGA
ENST00000681446.1:c.650-59_650-58delinsGA	ENSP00000506244.1:n.650-59_650-58delinsGA
ENST00000681450.1:c.617-59_617-58delinsGA	ENSP00000505660.1:n.617-59_617-58delinsGA
ENST00000681548.1:c.532-59_532-58delinsGA	ENSP00000505275.1:n.532-59_532-58delinsGA
ENST00000681616.1:c.605-59_605-58delinsGA	ENSP00000505111.1:n.605-59_605-58delinsGA
ENST00000681621.1:c.530-59_530-58delinsGA	ENSP00000505770.1:n.530-59_530-58delinsGA
ENST00000681680.1:n.3041-59_3041-58delinsGA
ENST00000681720.1:c.401-59_401-58delinsGA	ENSP00000505438.1:n.401-59_401-58delinsGA
ENST00000681730.1:n.1168-59_1168-58delinsGA
ENST00000681790.1:c.688-59_688-58delinsGA	ENSP00000505130.1:n.688-59_688-58delinsGA
ENST00000681837.1:n.1562-59_1562-58delinsGA
ENST00000681913.1:n.3192-59_3192-58delinsGA
ENST00000681916.1:c.714-59_714-58delinsGA	ENSP00000506477.1:n.714-59_714-58delinsGA
ENST00000681930.1:n.3070-59_3070-58delinsGA
ENST00000370834.9:c.1045-59_1045-58delinsGA	ENSP00000359871.5:n.1045-59_1045-58delinsGA
ENST00000370841.8:c.946-59_946-58delinsGA	ENSP00000359878.4:n.946-59_946-58delinsGA
ENST00000420607.6:c.958-59_958-58delinsGA	ENSP00000409612.2:n.958-59_958-58delinsGA
ENST00000481374.1:n.219-59_219-58delinsGA
ENST00000525808.5:c.532-59_532-58delinsGA	ENSP00000434823.1:n.532-59_532-58delinsGA
ENST00000526129.5:c.730-59_730-58delinsGA	ENSP00000434092.1:n.730-59_730-58delinsGA
ENST00000526196.5:c.714-59_714-58delinsGA	ENSP00000431953.1:n.714-59_714-58delinsGA
ENST00000528016.1:c.160-8114_160-8113delinsGA	ENSP00000434284.1:n.160-8114_160-8113delinsGA
ENST00000529059.5:n.855-59_855-58delinsGA
ENST00000532207.5:n.676-59_676-58delinsGA
ENST00000534334.5:c.687-59_687-58delinsGA	ENSP00000435584.1:n.687-59_687-58delinsGA
ENST00000541113.5:c.838-59_838-58delinsGA	ENSP00000442324.1:n.838-59_838-58delinsGA
NM_000016.5:c.946-59_946-58delinsGA	NP_000007.1:n.946-59_946-58delinsGA
NM_001127328.2:c.958-59_958-58delinsGA	NP_001120800.1:n.958-59_958-58delinsGA
NM_001286042.1:c.838-59_838-58delinsGA	NP_001272971.1:n.838-59_838-58delinsGA
NM_001286043.1:c.1045-59_1045-58delinsGA	NP_001272972.1:n.1045-59_1045-58delinsGA
NM_001286044.1:c.379-59_379-58delinsGA	NP_001272973.1:n.379-59_379-58delinsGA
NM_000016.6:c.946-59_946-58delinsGA MANE Select	NP_000007.1:n.946-59_946-58delinsGA
NM_001127328.3:c.958-59_958-58delinsGA	NP_001120800.1:n.958-59_958-58delinsGA
NM_001286042.2:c.838-59_838-58delinsGA	NP_001272971.1:n.838-59_838-58delinsGA
NM_001286043.2:c.1045-59_1045-58delinsGA	NP_001272972.1:n.1045-59_1045-58delinsGA
NM_001286044.2:c.379-59_379-58delinsGA	NP_001272973.1:n.379-59_379-58delinsGA