Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87958005_87958007delinsGAT , CM000672.2:g.87958005_87958007delinsGAT	GRCh38
NC_000010.10:g.89717762_89717764delinsGAT , CM000672.1:g.89717762_89717764delinsGAT	GRCh37
NC_000010.9:g.89707742_89707744delinsGAT	NCBI36
NG_007466.2:g.99567_99569delinsGAT , LRG_311:g.99567_99569delinsGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.787_789delinsGAT	ENSP00000514759.2:p.Lys263Asp
ENST00000710265.1:c.787_789delinsGAT	ENSP00000518161.1:p.Lys263Asp
ENST00000472832.3:c.787_789delinsGAT	ENSP00000483066.2:p.Lys263Asp
ENST00000688158.2:n.1522_1524delinsGAT
ENST00000688922.2:c.617_619delinsGAT	ENSP00000508742.2:n.617_619delinsGAT
ENST00000700021.1:c.742_744delinsGAT	ENSP00000514757.1:p.Lys248Asp
ENST00000700022.1:c.126_128delinsGAT	ENSP00000514758.1:n.126_128delinsGAT
ENST00000700023.1:n.1945_1947delinsGAT
ENST00000700024.1:n.2179_2181delinsGAT
ENST00000700025.1:n.1556_1558delinsGAT
ENST00000700026.1:n.424_426delinsGAT
ENST00000700029.1:c.621_623delinsGAT
ENST00000706954.1:c.787_789delinsGAT	ENSP00000516674.1:p.Lys263Asp
ENST00000706955.1:c.822_824delinsGAT	ENSP00000516675.1:n.822_824delinsGAT
ENST00000686459.1:c.373_375delinsGAT	ENSP00000508909.1:n.373_375delinsGAT
ENST00000688158.1:c.898_900delinsGAT	ENSP00000509254.1:n.898_900delinsGAT
ENST00000688308.1:c.787_789delinsGAT	ENSP00000508752.1:p.Lys263Asp
ENST00000688922.1:c.708_710delinsGAT
ENST00000693560.1:c.1306_1308delinsGAT	ENSP00000509861.1:p.Lys436Asp
ENST00000371953.8:c.787_789delinsGAT MANE Select	ENSP00000361021.3:p.Lys263Asp
ENST00000371953.7:c.787_789delinsGAT	ENSP00000361021.3:p.Lys263Asp
ENST00000472832.2:c.214_216delinsGAT	ENSP00000483066.1:p.Lys72Asp
NM_000314.5:c.787_789delinsGAT	NP_000305.3:p.Lys263Asp
NM_000314.6:c.787_789delinsGAT	NP_000305.3:p.Lys263Asp
NM_001304717.2:c.1306_1308delinsGAT	NP_001291646.2:p.Lys436Asp
NM_001304718.1:c.196_198delinsGAT	NP_001291647.1:p.Lys66Asp
XM_006717926.2:c.742_744delinsGAT	XP_006717989.1:p.Lys248Asp
XM_011539981.1:c.787_789delinsGAT	XP_011538283.1:p.Lys263Asp
XM_011539982.1:c.691_693delinsGAT	XP_011538284.1:p.Lys231Asp
XR_945791.1:n.1357_1359delinsGAT
NM_000314.7:c.787_789delinsGAT	NP_000305.3:p.Lys263Asp
NM_001304717.5:c.1306_1308delinsGAT	NP_001291646.4:p.Lys436Asp
NM_001304718.2:c.196_198delinsGAT	NP_001291647.1:p.Lys66Asp
NM_000314.8:c.787_789delinsGAT MANE Select	NP_000305.3:p.Lys263Asp