Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.89725336_89725337insCGAGAGAAAA , CM000666.2:g.89725336_89725337insCGAGAGAAAA	GRCh38
NC_000004.11:g.90646487_90646488insCGAGAGAAAA , CM000666.1:g.90646487_90646488insCGAGAGAAAA	GRCh37
NC_000004.10:g.90865510_90865511insCGAGAGAAAA	NCBI36
NG_011851.1:g.117960_117961insTTTTCTCTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394991.8:c.1291_1292insTTTTCTCTCG MANE Select	ENSP00000378442.4:n.1291_1292insTTTTCTCTCG
ENST00000673718.1:c.1291_1292insTTTTCTCTCG	ENSP00000500990.1:n.1291_1292insTTTTCTCTCG
ENST00000673766.1:n.1969_1970insTTTTCTCTCG
ENST00000673902.1:c.390+3857_390+3858insTTTTCTCTCG	ENSP00000501102.1:n.390+3857_390+3858insTTTTCTCTCG
ENST00000336904.7:c.1291_1292insTTTTCTCTCG	ENSP00000338345.3:n.1291_1292insTTTTCTCTCG
ENST00000394989.6:c.1291_1292insTTTTCTCTCG	ENSP00000378440.2:n.1291_1292insTTTTCTCTCG
ENST00000420646.6:c.1291_1292insTTTTCTCTCG	ENSP00000396241.2:n.1291_1292insTTTTCTCTCG
ENST00000618500.4:c.1291_1292insTTTTCTCTCG	ENSP00000484044.1:n.1291_1292insTTTTCTCTCG
NM_000345.3:c.1291_1292insTTTTCTCTCG	NP_000336.1:n.1291_1292insTTTTCTCTCG
NM_001146054.1:c.1291_1292insTTTTCTCTCG	NP_001139526.1:n.1291_1292insTTTTCTCTCG
NM_001146055.1:c.1291_1292insTTTTCTCTCG	NP_001139527.1:n.1291_1292insTTTTCTCTCG
NM_007308.2:c.1291_1292insTTTTCTCTCG	NP_009292.1:n.1291_1292insTTTTCTCTCG
NM_000345.4:c.1291_1292insTTTTCTCTCG MANE Select	NP_000336.1:n.1291_1292insTTTTCTCTCG
NM_001146054.2:c.1291_1292insTTTTCTCTCG	NP_001139526.1:n.1291_1292insTTTTCTCTCG
NM_001146055.2:c.1291_1292insTTTTCTCTCG	NP_001139527.1:n.1291_1292insTTTTCTCTCG
NM_001375285.1:c.1291_1292insTTTTCTCTCG	NP_001362214.1:n.1291_1292insTTTTCTCTCG
NM_001375286.1:c.1291_1292insTTTTCTCTCG	NP_001362215.1:n.1291_1292insTTTTCTCTCG
NM_001375287.1:c.1291_1292insTTTTCTCTCG	NP_001362216.1:n.1291_1292insTTTTCTCTCG
NM_001375288.1:c.1291_1292insTTTTCTCTCG	NP_001362217.1:n.1291_1292insTTTTCTCTCG
NM_001375290.1:c.1291_1292insTTTTCTCTCG	NP_001362219.1:n.1291_1292insTTTTCTCTCG
NR_164674.1:n.1277-23_1277-22insTTTTCTCTCG
NR_164675.1:n.1424-23_1424-22insTTTTCTCTCG
NR_164676.1:n.2012_2013insTTTTCTCTCG
NM_007308.3:c.1291_1292insTTTTCTCTCG	NP_009292.1:n.1291_1292insTTTTCTCTCG

HGVS	Amino-acid Change
ENST00000394991.8:c.1291_1292insTTTTCTCTCG MANE Select	ENSP00000378442.4:n.1291_1292insTTTTCTCTCG
ENST00000673718.1:c.1291_1292insTTTTCTCTCG	ENSP00000500990.1:n.1291_1292insTTTTCTCTCG
ENST00000673766.1:n.1969_1970insTTTTCTCTCG
ENST00000673902.1:c.390+3857_390+3858insTTTTCTCTCG	ENSP00000501102.1:n.390+3857_390+3858insTTTTCTCTCG
ENST00000336904.7:c.1291_1292insTTTTCTCTCG	ENSP00000338345.3:n.1291_1292insTTTTCTCTCG
ENST00000394989.6:c.1291_1292insTTTTCTCTCG	ENSP00000378440.2:n.1291_1292insTTTTCTCTCG
ENST00000420646.6:c.1291_1292insTTTTCTCTCG	ENSP00000396241.2:n.1291_1292insTTTTCTCTCG
ENST00000618500.4:c.1291_1292insTTTTCTCTCG	ENSP00000484044.1:n.1291_1292insTTTTCTCTCG
NM_000345.3:c.1291_1292insTTTTCTCTCG	NP_000336.1:n.1291_1292insTTTTCTCTCG
NM_001146054.1:c.1291_1292insTTTTCTCTCG	NP_001139526.1:n.1291_1292insTTTTCTCTCG
NM_001146055.1:c.1291_1292insTTTTCTCTCG	NP_001139527.1:n.1291_1292insTTTTCTCTCG
NM_007308.2:c.1291_1292insTTTTCTCTCG	NP_009292.1:n.1291_1292insTTTTCTCTCG
NM_000345.4:c.1291_1292insTTTTCTCTCG MANE Select	NP_000336.1:n.1291_1292insTTTTCTCTCG
NM_001146054.2:c.1291_1292insTTTTCTCTCG	NP_001139526.1:n.1291_1292insTTTTCTCTCG
NM_001146055.2:c.1291_1292insTTTTCTCTCG	NP_001139527.1:n.1291_1292insTTTTCTCTCG
NM_001375285.1:c.1291_1292insTTTTCTCTCG	NP_001362214.1:n.1291_1292insTTTTCTCTCG
NM_001375286.1:c.1291_1292insTTTTCTCTCG	NP_001362215.1:n.1291_1292insTTTTCTCTCG
NM_001375287.1:c.1291_1292insTTTTCTCTCG	NP_001362216.1:n.1291_1292insTTTTCTCTCG
NM_001375288.1:c.1291_1292insTTTTCTCTCG	NP_001362217.1:n.1291_1292insTTTTCTCTCG
NM_001375290.1:c.1291_1292insTTTTCTCTCG	NP_001362219.1:n.1291_1292insTTTTCTCTCG
NR_164674.1:n.1277-23_1277-22insTTTTCTCTCG
NR_164675.1:n.1424-23_1424-22insTTTTCTCTCG
NR_164676.1:n.2012_2013insTTTTCTCTCG
NM_007308.3:c.1291_1292insTTTTCTCTCG	NP_009292.1:n.1291_1292insTTTTCTCTCG