Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145189_44145190delinsCG , CM000669.2:g.44145189_44145190delinsCG	GRCh38
NC_000007.13:g.44184788_44184789delinsCG , CM000669.1:g.44184788_44184789delinsCG	GRCh37
NC_000007.12:g.44151313_44151314delinsCG	NCBI36
NG_008847.1:g.49234_49235delinsCG
NG_008847.2:g.57981_57982delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.1342_1343delinsCG	ENSP00000379142.4:n.1342_1343delinsCG
ENST00000616242.5:c.464_465delinsCG	ENSP00000482149.2:n.464_465delinsCG
ENST00000683378.1:n.570_571delinsCG
ENST00000336642.9:c.378_379delinsCG	ENSP00000338009.5:p.Gly126=
ENST00000345378.7:c.1347_1348delinsCG	ENSP00000223366.2:p.Gly449=
ENST00000403799.8:c.1344_1345delinsCG MANE Select	ENSP00000384247.3:p.Gly448=
ENST00000671824.1:c.1407_1408delinsCG	ENSP00000500264.1:p.Gly469=
ENST00000672743.1:n.356_357delinsCG
ENST00000673284.1:c.1344_1345delinsCG	ENSP00000499852.1:p.Gly448=
ENST00000336642.8:c.396_397delinsCG	ENSP00000338009.4:p.Gly132=
ENST00000345378.6:c.1347_1348delinsCG	ENSP00000223366.2:p.Gly449=
ENST00000395796.7:c.1341_1342delinsCG	ENSP00000379142.3:p.Gly447=
ENST00000403799.7:c.1344_1345delinsCG	ENSP00000384247.3:p.Gly448=
ENST00000437084.1:c.1293_1294delinsCG	ENSP00000402840.1:p.Gly431=
ENST00000459642.1:n.724_725delinsCG
ENST00000616242.4:c.1341_1342delinsCG	ENSP00000482149.1:p.Gly447=
NM_000162.3:c.1344_1345delinsCG	NP_000153.1:p.Gly448=
NM_033507.1:c.1347_1348delinsCG	NP_277042.1:p.Gly449=
NM_033508.1:c.1341_1342delinsCG	NP_277043.1:p.Gly447=
NM_000162.4:c.1344_1345delinsCG	NP_000153.1:p.Gly448=
NM_001354800.1:c.1344_1345delinsCG	NP_001341729.1:p.Gly448=
NM_001354801.1:c.333_334delinsCG	NP_001341730.1:p.Gly111=
NM_001354802.1:c.204_205delinsCG	NP_001341731.1:p.Gly68=
NM_001354803.1:c.378_379delinsCG	NP_001341732.1:p.Gly126=
NM_033507.2:c.1347_1348delinsCG	NP_277042.1:p.Gly449=
NM_033508.2:c.1341_1342delinsCG	NP_277043.1:p.Gly447=
XM_024446707.1:c.204_205delinsCG	XP_024302475.1:p.Gly68=
NM_000162.5:c.1344_1345delinsCG MANE Select	NP_000153.1:p.Gly448=
NM_033507.3:c.1347_1348delinsCG	NP_277042.1:p.Gly449=
NM_033508.3:c.1341_1342delinsCG	NP_277043.1:p.Gly447=
NM_001354803.2:c.378_379delinsCG	NP_001341732.1:p.Gly126=