Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480707_47480708insG , CM000664.2:g.47480707_47480708insG	GRCh38
NC_000002.11:g.47707846_47707847insG , CM000664.1:g.47707846_47707847insG	GRCh37
NC_000002.10:g.47561350_47561351insG	NCBI36
NG_007110.2:g.82584_82585insG , LRG_218:g.82584_82585insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2470_2471insG	ENSP00000495641.2:p.Gln824ArgfsTer12
ENST00000233146.7:c.2470_2471insG MANE Select	ENSP00000233146.2:p.Gln824ArgfsTer12
ENST00000543555.6:c.2272_2273insG	ENSP00000442697.1:p.Gln758ArgfsTer12
ENST00000644092.1:c.770_771insG	ENSP00000496351.1:n.770_771insG
ENST00000644900.1:c.323_324insG
ENST00000645339.1:c.2470_2471insG	ENSP00000496441.1:p.Gln824ArgfsTer12
ENST00000645506.1:c.2470_2471insG	ENSP00000495455.1:p.Gln824ArgfsTer12
ENST00000646415.1:c.2470_2471insG	ENSP00000495543.1:p.Gln824ArgfsTer12
ENST00000233146.6:c.2470_2471insG	ENSP00000233146.2:p.Gln824ArgfsTer12
ENST00000406134.5:c.2470_2471insG	ENSP00000384199.1:p.Gln824ArgfsTer12
ENST00000543555.5:c.2272_2273insG	ENSP00000442697.1:p.Gln758ArgfsTer12
ENST00000610696.4:c.866_867insG	ENSP00000483159.1:n.866_867insG
ENST00000613514.4:c.1010_1011insG	ENSP00000484137.1:n.1010_1011insG
ENST00000617333.3:c.1236_1237insG	ENSP00000482468.1:n.1236_1237insG
ENST00000617938.4:c.1442_1443insG	ENSP00000481158.1:n.1442_1443insG
ENST00000621359.2:c.36_37insG	ENSP00000481416.1:n.36_37insG
NM_000251.2:c.2470_2471insG , LRG_218t1:c.2470_2471insG	NP_000242.1:p.Gln824ArgfsTer12
NM_001258281.1:c.2272_2273insG	NP_001245210.1:p.Gln758ArgfsTer12
XM_005264332.2:c.2470_2471insG	XP_005264389.2:p.Gln824ArgfsTer12
XM_011532867.1:c.2470_2471insG	XP_011531169.1:p.Gln824ArgfsTer12
XR_939685.1:n.2542_2543insG
XM_005264332.4:c.2470_2471insG	XP_005264389.2:p.Gln824ArgfsTer12
XM_011532867.2:c.2470_2471insG	XP_011531169.1:p.Gln824ArgfsTer12
XR_001738747.2:n.2532_2533insG
XR_939685.2:n.2532_2533insG
NM_000251.3:c.2470_2471insG MANE Select	NP_000242.1:p.Gln824ArgfsTer12