Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145201_44145202delinsTG , CM000669.2:g.44145201_44145202delinsTG	GRCh38
NC_000007.13:g.44184800_44184801delinsTG , CM000669.1:g.44184800_44184801delinsTG	GRCh37
NC_000007.12:g.44151325_44151326delinsTG	NCBI36
NG_008847.1:g.49222_49223delinsCA
NG_008847.2:g.57969_57970delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.1330_1331delinsCA	ENSP00000379142.4:n.1330_1331delinsCA
ENST00000616242.5:c.452_453delinsCA	ENSP00000482149.2:n.452_453delinsCA
ENST00000683378.1:n.558_559delinsCA
ENST00000336642.9:c.366_367delinsCA	ENSP00000338009.5:p.Gly122=
ENST00000345378.7:c.1335_1336delinsCA	ENSP00000223366.2:p.Gly445=
ENST00000403799.8:c.1332_1333delinsCA MANE Select	ENSP00000384247.3:p.Gly444=
ENST00000671824.1:c.1395_1396delinsCA	ENSP00000500264.1:p.Gly465=
ENST00000672743.1:n.344_345delinsCA
ENST00000673284.1:c.1332_1333delinsCA	ENSP00000499852.1:p.Gly444=
ENST00000336642.8:c.384_385delinsCA	ENSP00000338009.4:p.Gly128=
ENST00000345378.6:c.1335_1336delinsCA	ENSP00000223366.2:p.Gly445=
ENST00000395796.7:c.1329_1330delinsCA	ENSP00000379142.3:p.Gly443=
ENST00000403799.7:c.1332_1333delinsCA	ENSP00000384247.3:p.Gly444=
ENST00000437084.1:c.1281_1282delinsCA	ENSP00000402840.1:p.Gly427=
ENST00000459642.1:n.712_713delinsCA
ENST00000616242.4:c.1329_1330delinsCA	ENSP00000482149.1:p.Gly443=
NM_000162.3:c.1332_1333delinsCA	NP_000153.1:p.Gly444=
NM_033507.1:c.1335_1336delinsCA	NP_277042.1:p.Gly445=
NM_033508.1:c.1329_1330delinsCA	NP_277043.1:p.Gly443=
NM_000162.4:c.1332_1333delinsCA	NP_000153.1:p.Gly444=
NM_001354800.1:c.1332_1333delinsCA	NP_001341729.1:p.Gly444=
NM_001354801.1:c.321_322delinsCA	NP_001341730.1:p.Gly107=
NM_001354802.1:c.192_193delinsCA	NP_001341731.1:p.Gly64=
NM_001354803.1:c.366_367delinsCA	NP_001341732.1:p.Gly122=
NM_033507.2:c.1335_1336delinsCA	NP_277042.1:p.Gly445=
NM_033508.2:c.1329_1330delinsCA	NP_277043.1:p.Gly443=
XM_024446707.1:c.192_193delinsCA	XP_024302475.1:p.Gly64=
NM_000162.5:c.1332_1333delinsCA MANE Select	NP_000153.1:p.Gly444=
NM_033507.3:c.1335_1336delinsCA	NP_277042.1:p.Gly445=
NM_033508.3:c.1329_1330delinsCA	NP_277043.1:p.Gly443=
NM_001354803.2:c.366_367delinsCA	NP_001341732.1:p.Gly122=