Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87958002_87958004delinsGAA , CM000672.2:g.87958002_87958004delinsGAA	GRCh38
NC_000010.10:g.89717759_89717761delinsGAA , CM000672.1:g.89717759_89717761delinsGAA	GRCh37
NC_000010.9:g.89707739_89707741delinsGAA	NCBI36
NG_007466.2:g.99564_99566delinsGAA , LRG_311:g.99564_99566delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.784_786delinsGAA	ENSP00000514759.2:p.Asn262Glu
ENST00000710265.1:c.784_786delinsGAA	ENSP00000518161.1:p.Asn262Glu
ENST00000472832.3:c.784_786delinsGAA	ENSP00000483066.2:p.Asn262Glu
ENST00000688158.2:n.1519_1521delinsGAA
ENST00000688922.2:c.614_616delinsGAA	ENSP00000508742.2:n.614_616delinsGAA
ENST00000700021.1:c.739_741delinsGAA	ENSP00000514757.1:p.Asn247Glu
ENST00000700022.1:c.123_125delinsGAA	ENSP00000514758.1:n.123_125delinsGAA
ENST00000700023.1:n.1942_1944delinsGAA
ENST00000700024.1:n.2176_2178delinsGAA
ENST00000700025.1:n.1553_1555delinsGAA
ENST00000700026.1:n.421_423delinsGAA
ENST00000700029.1:c.618_620delinsGAA
ENST00000706954.1:c.784_786delinsGAA	ENSP00000516674.1:p.Asn262Glu
ENST00000706955.1:c.819_821delinsGAA	ENSP00000516675.1:n.819_821delinsGAA
ENST00000686459.1:c.370_372delinsGAA	ENSP00000508909.1:n.370_372delinsGAA
ENST00000688158.1:c.895_897delinsGAA	ENSP00000509254.1:n.895_897delinsGAA
ENST00000688308.1:c.784_786delinsGAA	ENSP00000508752.1:p.Asn262Glu
ENST00000688922.1:c.705_707delinsGAA
ENST00000693560.1:c.1303_1305delinsGAA	ENSP00000509861.1:p.Asn435Glu
ENST00000371953.8:c.784_786delinsGAA MANE Select	ENSP00000361021.3:p.Asn262Glu
ENST00000371953.7:c.784_786delinsGAA	ENSP00000361021.3:p.Asn262Glu
ENST00000472832.2:c.211_213delinsGAA	ENSP00000483066.1:p.Asn71Glu
NM_000314.5:c.784_786delinsGAA	NP_000305.3:p.Asn262Glu
NM_000314.6:c.784_786delinsGAA	NP_000305.3:p.Asn262Glu
NM_001304717.2:c.1303_1305delinsGAA	NP_001291646.2:p.Asn435Glu
NM_001304718.1:c.193_195delinsGAA	NP_001291647.1:p.Asn65Glu
XM_006717926.2:c.739_741delinsGAA	XP_006717989.1:p.Asn247Glu
XM_011539981.1:c.784_786delinsGAA	XP_011538283.1:p.Asn262Glu
XM_011539982.1:c.688_690delinsGAA	XP_011538284.1:p.Asn230Glu
XR_945791.1:n.1354_1356delinsGAA
NM_000314.7:c.784_786delinsGAA	NP_000305.3:p.Asn262Glu
NM_001304717.5:c.1303_1305delinsGAA	NP_001291646.4:p.Asn435Glu
NM_001304718.2:c.193_195delinsGAA	NP_001291647.1:p.Asn65Glu
NM_000314.8:c.784_786delinsGAA MANE Select	NP_000305.3:p.Asn262Glu