Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117668143_117668147delinsTGAGA , CM000669.2:g.117668143_117668147delinsTGAGA	GRCh38
NC_000007.13:g.117308197_117308201delinsTGAGA , CM000669.1:g.117308197_117308201delinsTGAGA	GRCh37
NC_000007.12:g.117095433_117095437delinsTGAGA	NCBI36
NG_016465.4:g.207360_207364delinsTGAGA , LRG_663:g.207360_207364delinsTGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1687_1691delinsTGAGA	ENSP00000497673.2:n.1687_1691delinsTGAGA
ENST00000647978.2:c.5192_5196delinsTGAGA	ENSP00000497658.1:n.5192_5196delinsTGAGA
ENST00000649781.2:c.1035_1039delinsTGAGA	ENSP00000497203.1:n.1035_1039delinsTGAGA
ENST00000685018.2:c.1691_1695delinsTGAGA	ENSP00000510194.2:n.1691_1695delinsTGAGA
ENST00000687278.2:c.1052-336_1052-332delinsTGAGA	ENSP00000509593.2:n.1052-336_1052-332delinsTGAGA
ENST00000699585.1:c.1947_1951delinsTGAGA	ENSP00000514456.1:n.1947_1951delinsTGAGA
ENST00000699598.1:c.455-336_455-332delinsTGAGA	ENSP00000514467.1:n.455-336_455-332delinsTGAGA
ENST00000699599.1:c.962-336_962-332delinsTGAGA	ENSP00000514468.1:n.962-336_962-332delinsTGAGA
ENST00000699600.1:c.1060-336_1060-332delinsTGAGA	ENSP00000514469.1:n.1060-336_1060-332delinsTGAGA
ENST00000699601.1:c.3853_3857delinsTGAGA	ENSP00000514470.1:n.3853_3857delinsTGAGA
ENST00000699602.1:c.1035_1039delinsTGAGA	ENSP00000514471.1:n.1035_1039delinsTGAGA
ENST00000699604.1:c.5302_5306delinsTGAGA	ENSP00000514472.1:n.5302_5306delinsTGAGA
ENST00000699605.1:c.1035_1039delinsTGAGA	ENSP00000514473.1:n.1035_1039delinsTGAGA
ENST00000699606.1:n.4989_4993delinsTGAGA
ENST00000685018.1:c.2342_2346delinsTGAGA	ENSP00000510194.1:n.2342_2346delinsTGAGA
ENST00000687278.1:c.2186-336_2186-332delinsTGAGA	ENSP00000509593.1:n.2186-336_2186-332delinsTGAGA
ENST00000689011.1:c.2320_2324delinsTGAGA
ENST00000003084.11:c.1035_1039delinsTGAGA MANE Select	ENSP00000003084.6:n.1035_1039delinsTGAGA
ENST00000647720.1:c.2928_2932delinsTGAGA
ENST00000003084.10:c.1035_1039delinsTGAGA	ENSP00000003084.6:n.1035_1039delinsTGAGA
ENST00000600166.1:c.368+2579_368+2583delinsTGAGA
NM_000492.3:c.1035_1039delinsTGAGA , LRG_663t1:c.1035_1039delinsTGAGA	NP_000483.3:n.1035_1039delinsTGAGA
XM_011515751.1:c.1035_1039delinsTGAGA	XP_011514053.1:n.1035_1039delinsTGAGA
XM_011515753.1:c.1035_1039delinsTGAGA	XP_011514055.1:n.1035_1039delinsTGAGA
XM_011515754.1:c.1035_1039delinsTGAGA	XP_011514056.1:n.1035_1039delinsTGAGA
NM_000492.4:c.1035_1039delinsTGAGA MANE Select	NP_000483.3:n.1035_1039delinsTGAGA

HGVS	Amino-acid Change
ENST00000647720.2:c.1687_1691delinsTGAGA	ENSP00000497673.2:n.1687_1691delinsTGAGA
ENST00000647978.2:c.5192_5196delinsTGAGA	ENSP00000497658.1:n.5192_5196delinsTGAGA
ENST00000649781.2:c.1035_1039delinsTGAGA	ENSP00000497203.1:n.1035_1039delinsTGAGA
ENST00000685018.2:c.1691_1695delinsTGAGA	ENSP00000510194.2:n.1691_1695delinsTGAGA
ENST00000687278.2:c.1052-336_1052-332delinsTGAGA	ENSP00000509593.2:n.1052-336_1052-332delinsTGAGA
ENST00000699585.1:c.1947_1951delinsTGAGA	ENSP00000514456.1:n.1947_1951delinsTGAGA
ENST00000699598.1:c.455-336_455-332delinsTGAGA	ENSP00000514467.1:n.455-336_455-332delinsTGAGA
ENST00000699599.1:c.962-336_962-332delinsTGAGA	ENSP00000514468.1:n.962-336_962-332delinsTGAGA
ENST00000699600.1:c.1060-336_1060-332delinsTGAGA	ENSP00000514469.1:n.1060-336_1060-332delinsTGAGA
ENST00000699601.1:c.3853_3857delinsTGAGA	ENSP00000514470.1:n.3853_3857delinsTGAGA
ENST00000699602.1:c.1035_1039delinsTGAGA	ENSP00000514471.1:n.1035_1039delinsTGAGA
ENST00000699604.1:c.5302_5306delinsTGAGA	ENSP00000514472.1:n.5302_5306delinsTGAGA
ENST00000699605.1:c.1035_1039delinsTGAGA	ENSP00000514473.1:n.1035_1039delinsTGAGA
ENST00000699606.1:n.4989_4993delinsTGAGA
ENST00000685018.1:c.2342_2346delinsTGAGA	ENSP00000510194.1:n.2342_2346delinsTGAGA
ENST00000687278.1:c.2186-336_2186-332delinsTGAGA	ENSP00000509593.1:n.2186-336_2186-332delinsTGAGA
ENST00000689011.1:c.2320_2324delinsTGAGA
ENST00000003084.11:c.1035_1039delinsTGAGA MANE Select	ENSP00000003084.6:n.1035_1039delinsTGAGA
ENST00000647720.1:c.2928_2932delinsTGAGA
ENST00000003084.10:c.1035_1039delinsTGAGA	ENSP00000003084.6:n.1035_1039delinsTGAGA
ENST00000600166.1:c.368+2579_368+2583delinsTGAGA
NM_000492.3:c.1035_1039delinsTGAGA , LRG_663t1:c.1035_1039delinsTGAGA	NP_000483.3:n.1035_1039delinsTGAGA
XM_011515751.1:c.1035_1039delinsTGAGA	XP_011514053.1:n.1035_1039delinsTGAGA
XM_011515753.1:c.1035_1039delinsTGAGA	XP_011514055.1:n.1035_1039delinsTGAGA
XM_011515754.1:c.1035_1039delinsTGAGA	XP_011514056.1:n.1035_1039delinsTGAGA
NM_000492.4:c.1035_1039delinsTGAGA MANE Select	NP_000483.3:n.1035_1039delinsTGAGA