Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78964379_78964380delinsCA , CM000667.2:g.78964379_78964380delinsCA	GRCh38
NC_000005.9:g.78260202_78260203delinsCA , CM000667.1:g.78260202_78260203delinsCA	GRCh37
NC_000005.8:g.78295958_78295959delinsCA	NCBI36
NG_007089.1:g.27155_27156delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264914.10:c.690+36_690+37delinsTG MANE Select	ENSP00000264914.4:n.690+36_690+37delinsTG
ENST00000565165.2:c.690+36_690+37delinsTG	ENSP00000456339.2:n.690+36_690+37delinsTG
ENST00000264914.8:c.690+36_690+37delinsTG	ENSP00000264914.4:n.690+36_690+37delinsTG
ENST00000396151.7:c.690+36_690+37delinsTG	ENSP00000379455.3:n.690+36_690+37delinsTG
ENST00000565165.1:c.690+36_690+37delinsTG	ENSP00000456339.1:n.690+36_690+37delinsTG
NM_000046.3:c.690+36_690+37delinsTG	NP_000037.2:n.690+36_690+37delinsTG
NM_198709.2:c.690+36_690+37delinsTG	NP_942002.1:n.690+36_690+37delinsTG
XM_005248506.3:c.690+36_690+37delinsTG	XP_005248563.1:n.690+36_690+37delinsTG
XM_006714615.2:c.690+36_690+37delinsTG	XP_006714678.1:n.690+36_690+37delinsTG
XM_011543390.1:c.690+36_690+37delinsTG	XP_011541692.1:n.690+36_690+37delinsTG
XM_011543391.1:c.690+36_690+37delinsTG	XP_011541693.1:n.690+36_690+37delinsTG
XM_011543392.1:c.690+36_690+37delinsTG	XP_011541694.1:n.690+36_690+37delinsTG
XM_011543393.1:c.690+36_690+37delinsTG	XP_011541695.1:n.690+36_690+37delinsTG
NM_000046.4:c.690+36_690+37delinsTG	NP_000037.2:n.690+36_690+37delinsTG
XM_011543391.3:c.690+36_690+37delinsTG	XP_011541693.1:n.690+36_690+37delinsTG
XM_011543392.3:c.690+36_690+37delinsTG	XP_011541694.1:n.690+36_690+37delinsTG
XM_011543393.2:c.690+36_690+37delinsTG	XP_011541695.1:n.690+36_690+37delinsTG
XM_017009471.2:c.690+36_690+37delinsTG	XP_016864960.1:n.690+36_690+37delinsTG
XR_001742065.2:n.761+36_761+37delinsTG
XR_001742066.2:n.761+36_761+37delinsTG
NM_000046.5:c.690+36_690+37delinsTG MANE Select	NP_000037.2:n.690+36_690+37delinsTG
NM_198709.3:c.690+36_690+37delinsTG	NP_942002.1:n.690+36_690+37delinsTG