Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.80037601_80037602delinsAT , CM000670.2:g.80037601_80037602delinsAT	GRCh38
NC_000008.10:g.80949836_80949837delinsAT , CM000670.1:g.80949836_80949837delinsAT	GRCh37
NC_000008.9:g.81112391_81112392delinsAT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000518937.6:c.514_515delinsAT MANE Select	ENSP00000429915.1:n.514_515delinsAT
ENST00000379096.9:c.514_515delinsAT	ENSP00000368390.4:n.514_515delinsAT
ENST00000379097.7:c.514_515delinsAT	ENSP00000368391.3:n.514_515delinsAT
ENST00000448733.3:c.514_515delinsAT	ENSP00000410222.2:n.514_515delinsAT
ENST00000517427.5:c.514_515delinsAT	ENSP00000429351.1:n.514_515delinsAT
ENST00000517462.6:c.872_873delinsAT	ENSP00000429708.1:n.872_873delinsAT
ENST00000518937.5:c.514_515delinsAT	ENSP00000429915.1:n.514_515delinsAT
ENST00000519303.6:c.514_515delinsAT	ENSP00000428951.1:n.514_515delinsAT
ENST00000520527.5:c.514_515delinsAT	ENSP00000429309.1:n.514_515delinsAT
ENST00000522938.5:c.555+5018_555+5019delinsAT	ENSP00000430858.2:n.555+5018_555+5019delinsAT
NM_001025252.2:c.514_515delinsAT	NP_001020423.1:n.514_515delinsAT
NM_001025253.2:c.514_515delinsAT	NP_001020424.1:n.514_515delinsAT
NM_001287140.1:c.514_515delinsAT	NP_001274069.1:n.514_515delinsAT
NM_001287142.1:c.514_515delinsAT	NP_001274071.1:n.514_515delinsAT
NM_001287143.1:c.514_515delinsAT	NP_001274072.1:n.514_515delinsAT
NM_001287144.1:c.624_625delinsAT	NP_001274073.1:n.624_625delinsAT
NM_005079.3:c.514_515delinsAT	NP_005070.1:n.514_515delinsAT
NR_105033.1:n.1706_1707delinsAT
NR_105034.1:n.1169_1170delinsAT
NR_105035.1:n.1355_1356delinsAT
NR_105036.1:n.1299_1300delinsAT
NR_105037.1:n.1300_1301delinsAT
NM_001025252.3:c.514_515delinsAT	NP_001020423.1:n.514_515delinsAT
NM_001025253.3:c.514_515delinsAT MANE Select	NP_001020424.1:n.514_515delinsAT
NM_001287140.2:c.514_515delinsAT	NP_001274069.1:n.514_515delinsAT
NM_001287143.2:c.514_515delinsAT	NP_001274072.1:n.514_515delinsAT
NM_001287144.2:c.624_625delinsAT	NP_001274073.1:n.624_625delinsAT
NM_005079.4:c.514_515delinsAT	NP_005070.1:n.514_515delinsAT
NR_105033.2:n.1705_1706delinsAT
NR_105034.2:n.1074_1075delinsAT
NR_105035.2:n.1260_1261delinsAT
NR_105036.2:n.1220_1221delinsAT
NR_105037.2:n.1221_1222delinsAT
NM_001287142.2:c.514_515delinsAT	NP_001274071.1:n.514_515delinsAT
NM_001387778.1:c.435+5018_435+5019delinsAT	NP_001374707.1:n.435+5018_435+5019delinsAT
NM_001387779.1:c.436-3759_436-3758delinsAT	NP_001374708.1:n.436-3759_436-3758delinsAT
NM_001387780.1:c.460-3759_460-3758delinsAT	NP_001374709.1:n.460-3759_460-3758delinsAT
NR_170693.1:n.1209_1210delinsAT
NR_170694.1:n.1236_1237delinsAT

HGVS	Amino-acid Change
ENST00000518937.6:c.514_515delinsAT MANE Select	ENSP00000429915.1:n.514_515delinsAT
ENST00000379096.9:c.514_515delinsAT	ENSP00000368390.4:n.514_515delinsAT
ENST00000379097.7:c.514_515delinsAT	ENSP00000368391.3:n.514_515delinsAT
ENST00000448733.3:c.514_515delinsAT	ENSP00000410222.2:n.514_515delinsAT
ENST00000517427.5:c.514_515delinsAT	ENSP00000429351.1:n.514_515delinsAT
ENST00000517462.6:c.872_873delinsAT	ENSP00000429708.1:n.872_873delinsAT
ENST00000518937.5:c.514_515delinsAT	ENSP00000429915.1:n.514_515delinsAT
ENST00000519303.6:c.514_515delinsAT	ENSP00000428951.1:n.514_515delinsAT
ENST00000520527.5:c.514_515delinsAT	ENSP00000429309.1:n.514_515delinsAT
ENST00000522938.5:c.555+5018_555+5019delinsAT	ENSP00000430858.2:n.555+5018_555+5019delinsAT
NM_001025252.2:c.514_515delinsAT	NP_001020423.1:n.514_515delinsAT
NM_001025253.2:c.514_515delinsAT	NP_001020424.1:n.514_515delinsAT
NM_001287140.1:c.514_515delinsAT	NP_001274069.1:n.514_515delinsAT
NM_001287142.1:c.514_515delinsAT	NP_001274071.1:n.514_515delinsAT
NM_001287143.1:c.514_515delinsAT	NP_001274072.1:n.514_515delinsAT
NM_001287144.1:c.624_625delinsAT	NP_001274073.1:n.624_625delinsAT
NM_005079.3:c.514_515delinsAT	NP_005070.1:n.514_515delinsAT
NR_105033.1:n.1706_1707delinsAT
NR_105034.1:n.1169_1170delinsAT
NR_105035.1:n.1355_1356delinsAT
NR_105036.1:n.1299_1300delinsAT
NR_105037.1:n.1300_1301delinsAT
NM_001025252.3:c.514_515delinsAT	NP_001020423.1:n.514_515delinsAT
NM_001025253.3:c.514_515delinsAT MANE Select	NP_001020424.1:n.514_515delinsAT
NM_001287140.2:c.514_515delinsAT	NP_001274069.1:n.514_515delinsAT
NM_001287143.2:c.514_515delinsAT	NP_001274072.1:n.514_515delinsAT
NM_001287144.2:c.624_625delinsAT	NP_001274073.1:n.624_625delinsAT
NM_005079.4:c.514_515delinsAT	NP_005070.1:n.514_515delinsAT
NR_105033.2:n.1705_1706delinsAT
NR_105034.2:n.1074_1075delinsAT
NR_105035.2:n.1260_1261delinsAT
NR_105036.2:n.1220_1221delinsAT
NR_105037.2:n.1221_1222delinsAT
NM_001287142.2:c.514_515delinsAT	NP_001274071.1:n.514_515delinsAT
NM_001387778.1:c.435+5018_435+5019delinsAT	NP_001374707.1:n.435+5018_435+5019delinsAT
NM_001387779.1:c.436-3759_436-3758delinsAT	NP_001374708.1:n.436-3759_436-3758delinsAT
NM_001387780.1:c.460-3759_460-3758delinsAT	NP_001374709.1:n.460-3759_460-3758delinsAT
NR_170693.1:n.1209_1210delinsAT
NR_170694.1:n.1236_1237delinsAT