Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478373_47478374delinsCA , CM000664.2:g.47478373_47478374delinsCA	GRCh38
NC_000002.11:g.47705512_47705513delinsCA , CM000664.1:g.47705512_47705513delinsCA	GRCh37
NC_000002.10:g.47559016_47559017delinsCA	NCBI36
NG_007110.2:g.80250_80251delinsCA , LRG_218:g.80250_80251delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2312_2313delinsCA	ENSP00000495641.2:p.Ala771=
ENST00000233146.7:c.2312_2313delinsCA MANE Select	ENSP00000233146.2:p.Ala771=
ENST00000543555.6:c.2114_2115delinsCA	ENSP00000442697.1:p.Ala705=
ENST00000644092.1:c.612_613delinsCA	ENSP00000496351.1:n.612_613delinsCA
ENST00000644900.1:c.165_166delinsCA
ENST00000645339.1:c.2312_2313delinsCA	ENSP00000496441.1:p.Ala771=
ENST00000645506.1:c.2312_2313delinsCA	ENSP00000495455.1:p.Ala771=
ENST00000646415.1:c.2312_2313delinsCA	ENSP00000495543.1:p.Ala771=
ENST00000233146.6:c.2312_2313delinsCA	ENSP00000233146.2:p.Ala771=
ENST00000406134.5:c.2312_2313delinsCA	ENSP00000384199.1:p.Ala771=
ENST00000543555.5:c.2114_2115delinsCA	ENSP00000442697.1:p.Ala705=
ENST00000610696.4:c.708_709delinsCA	ENSP00000483159.1:n.708_709delinsCA
ENST00000613514.4:c.852_853delinsCA	ENSP00000484137.1:n.852_853delinsCA
ENST00000617333.3:c.1078_1079delinsCA	ENSP00000482468.1:n.1078_1079delinsCA
ENST00000617938.4:c.1284_1285delinsCA	ENSP00000481158.1:n.1284_1285delinsCA
ENST00000621359.2:c.2312_2313delinsCA	ENSP00000481416.1:p.Ala771=
NM_000251.2:c.2312_2313delinsCA , LRG_218t1:c.2312_2313delinsCA	NP_000242.1:p.Ala771=
NM_001258281.1:c.2114_2115delinsCA	NP_001245210.1:p.Ala705=
XM_005264332.2:c.2312_2313delinsCA	XP_005264389.2:p.Ala771=
XM_011532867.1:c.2312_2313delinsCA	XP_011531169.1:p.Ala771=
XR_939685.1:n.2384_2385delinsCA
XM_005264332.4:c.2312_2313delinsCA	XP_005264389.2:p.Ala771=
XM_011532867.2:c.2312_2313delinsCA	XP_011531169.1:p.Ala771=
XR_001738747.2:n.2374_2375delinsCA
XR_939685.2:n.2374_2375delinsCA
NM_000251.3:c.2312_2313delinsCA MANE Select	NP_000242.1:p.Ala771=