Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87966936_87966951delinsGTGCAGTGTTGAATCA , CM000672.2:g.87966936_87966951delinsGTGCAGTGTTGAATCA	GRCh38
NC_000010.10:g.89726693_89726708delinsGTGCAGTGTTGAATCA , CM000672.1:g.89726693_89726708delinsGTGCAGTGTTGAATCA	GRCh37
NC_000010.9:g.89716673_89716688delinsGTGCAGTGTTGAATCA	NCBI36
NG_007466.2:g.108498_108513delinsGTGCAGTGTTGAATCA , LRG_311:g.108498_108513delinsGTGCAGTGTTGAATCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710265.1:c.1705_1720delinsGTGCAGTGTTGAATCA	ENSP00000518161.1:n.1705_1720delinsGTGCAGTGTTGAATCA
ENST00000688158.2:n.3411_3426delinsGTGCAGTGTTGAATCA
ENST00000706954.1:c.1464_1479delinsGTGCAGTGTTGAATCA	ENSP00000516674.1:n.1464_1479delinsGTGCAGTGTTGAATCA
ENST00000706955.1:c.2711_2726delinsGTGCAGTGTTGAATCA	ENSP00000516675.1:n.2711_2726delinsGTGCAGTGTTGAATCA
ENST00000688158.1:c.2787_2802delinsGTGCAGTGTTGAATCA	ENSP00000509254.1:n.2787_2802delinsGTGCAGTGTTGAATCA
ENST00000693560.1:c.1464_1479delinsGTGCAGTGTTGAATCA	ENSP00000509861.1:n.1464_1479delinsGTGCAGTGTTGAATCA
ENST00000371953.8:c.1464_1479delinsGTGCAGTGTTGAATCA MANE Select	ENSP00000361021.3:n.1464_1479delinsGTGCAGTGTTGAATCA
ENST00000371953.7:c.1464_1479delinsGTGCAGTGTTGAATCA	ENSP00000361021.3:n.1464_1479delinsGTGCAGTGTTGAATCA
NM_000314.5:c.1464_1479delinsGTGCAGTGTTGAATCA	NP_000305.3:n.1464_1479delinsGTGCAGTGTTGAATCA
NM_000314.6:c.1464_1479delinsGTGCAGTGTTGAATCA	NP_000305.3:n.1464_1479delinsGTGCAGTGTTGAATCA
NM_001304717.2:c.1464_1479delinsGTGCAGTGTTGAATCA	NP_001291646.2:n.1464_1479delinsGTGCAGTGTTGAATCA
NM_001304718.1:c.1464_1479delinsGTGCAGTGTTGAATCA	NP_001291647.1:n.1464_1479delinsGTGCAGTGTTGAATCA
XM_006717926.2:c.1464_1479delinsGTGCAGTGTTGAATCA	XP_006717989.1:n.1464_1479delinsGTGCAGTGTTGAATCA
XM_011539982.1:c.1464_1479delinsGTGCAGTGTTGAATCA	XP_011538284.1:n.1464_1479delinsGTGCAGTGTTGAATCA
XR_945791.1:n.3246_3261delinsGTGCAGTGTTGAATCA
NM_000314.7:c.1464_1479delinsGTGCAGTGTTGAATCA	NP_000305.3:n.1464_1479delinsGTGCAGTGTTGAATCA
NM_001304717.5:c.1464_1479delinsGTGCAGTGTTGAATCA	NP_001291646.4:n.1464_1479delinsGTGCAGTGTTGAATCA
NM_001304718.2:c.1464_1479delinsGTGCAGTGTTGAATCA	NP_001291647.1:n.1464_1479delinsGTGCAGTGTTGAATCA
NM_000314.8:c.1464_1479delinsGTGCAGTGTTGAATCA MANE Select	NP_000305.3:n.1464_1479delinsGTGCAGTGTTGAATCA

HGVS	Amino-acid Change
ENST00000710265.1:c.1705_1720delinsGTGCAGTGTTGAATCA	ENSP00000518161.1:n.1705_1720delinsGTGCAGTGTTGAATCA
ENST00000688158.2:n.3411_3426delinsGTGCAGTGTTGAATCA
ENST00000706954.1:c.1464_1479delinsGTGCAGTGTTGAATCA	ENSP00000516674.1:n.1464_1479delinsGTGCAGTGTTGAATCA
ENST00000706955.1:c.2711_2726delinsGTGCAGTGTTGAATCA	ENSP00000516675.1:n.2711_2726delinsGTGCAGTGTTGAATCA
ENST00000688158.1:c.2787_2802delinsGTGCAGTGTTGAATCA	ENSP00000509254.1:n.2787_2802delinsGTGCAGTGTTGAATCA
ENST00000693560.1:c.1464_1479delinsGTGCAGTGTTGAATCA	ENSP00000509861.1:n.1464_1479delinsGTGCAGTGTTGAATCA
ENST00000371953.8:c.1464_1479delinsGTGCAGTGTTGAATCA MANE Select	ENSP00000361021.3:n.1464_1479delinsGTGCAGTGTTGAATCA
ENST00000371953.7:c.1464_1479delinsGTGCAGTGTTGAATCA	ENSP00000361021.3:n.1464_1479delinsGTGCAGTGTTGAATCA
NM_000314.5:c.1464_1479delinsGTGCAGTGTTGAATCA	NP_000305.3:n.1464_1479delinsGTGCAGTGTTGAATCA
NM_000314.6:c.1464_1479delinsGTGCAGTGTTGAATCA	NP_000305.3:n.1464_1479delinsGTGCAGTGTTGAATCA
NM_001304717.2:c.1464_1479delinsGTGCAGTGTTGAATCA	NP_001291646.2:n.1464_1479delinsGTGCAGTGTTGAATCA
NM_001304718.1:c.1464_1479delinsGTGCAGTGTTGAATCA	NP_001291647.1:n.1464_1479delinsGTGCAGTGTTGAATCA
XM_006717926.2:c.1464_1479delinsGTGCAGTGTTGAATCA	XP_006717989.1:n.1464_1479delinsGTGCAGTGTTGAATCA
XM_011539982.1:c.1464_1479delinsGTGCAGTGTTGAATCA	XP_011538284.1:n.1464_1479delinsGTGCAGTGTTGAATCA
XR_945791.1:n.3246_3261delinsGTGCAGTGTTGAATCA
NM_000314.7:c.1464_1479delinsGTGCAGTGTTGAATCA	NP_000305.3:n.1464_1479delinsGTGCAGTGTTGAATCA
NM_001304717.5:c.1464_1479delinsGTGCAGTGTTGAATCA	NP_001291646.4:n.1464_1479delinsGTGCAGTGTTGAATCA
NM_001304718.2:c.1464_1479delinsGTGCAGTGTTGAATCA	NP_001291647.1:n.1464_1479delinsGTGCAGTGTTGAATCA
NM_000314.8:c.1464_1479delinsGTGCAGTGTTGAATCA MANE Select	NP_000305.3:n.1464_1479delinsGTGCAGTGTTGAATCA