Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145601_44145602delinsCG , CM000669.2:g.44145601_44145602delinsCG	GRCh38
NC_000007.13:g.44185200_44185201delinsCG , CM000669.1:g.44185200_44185201delinsCG	GRCh37
NC_000007.12:g.44151725_44151726delinsCG	NCBI36
NG_008847.1:g.48822_48823delinsCG
NG_008847.2:g.57569_57570delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.1146_1147delinsCG	ENSP00000379142.4:n.1146_1147delinsCG
ENST00000616242.5:c.268_269delinsCG	ENSP00000482149.2:n.268_269delinsCG
ENST00000683378.1:n.374_375delinsCG
ENST00000336642.9:c.182_183delinsCG	ENSP00000338009.5:p.Ser61=
ENST00000345378.7:c.1151_1152delinsCG	ENSP00000223366.2:p.Ser384=
ENST00000403799.8:c.1148_1149delinsCG MANE Select	ENSP00000384247.3:p.Ser383=
ENST00000671824.1:c.1211_1212delinsCG	ENSP00000500264.1:p.Ser404=
ENST00000672743.1:n.160_161delinsCG
ENST00000673284.1:c.1148_1149delinsCG	ENSP00000499852.1:p.Ser383=
ENST00000336642.8:c.200_201delinsCG	ENSP00000338009.4:p.Ser67=
ENST00000345378.6:c.1151_1152delinsCG	ENSP00000223366.2:p.Ser384=
ENST00000395796.7:c.1145_1146delinsCG	ENSP00000379142.3:p.Ser382=
ENST00000403799.7:c.1148_1149delinsCG	ENSP00000384247.3:p.Ser383=
ENST00000437084.1:c.1097_1098delinsCG	ENSP00000402840.1:p.Ser366=
ENST00000459642.1:n.528_529delinsCG
ENST00000616242.4:c.1145_1146delinsCG	ENSP00000482149.1:p.Ser382=
NM_000162.3:c.1148_1149delinsCG	NP_000153.1:p.Ser383=
NM_033507.1:c.1151_1152delinsCG	NP_277042.1:p.Ser384=
NM_033508.1:c.1145_1146delinsCG	NP_277043.1:p.Ser382=
NM_000162.4:c.1148_1149delinsCG	NP_000153.1:p.Ser383=
NM_001354800.1:c.1148_1149delinsCG	NP_001341729.1:p.Ser383=
NM_001354801.1:c.137_138delinsCG	NP_001341730.1:p.Ser46=
NM_001354802.1:c.8_9delinsCG	NP_001341731.1:p.Ser3=
NM_001354803.1:c.182_183delinsCG	NP_001341732.1:p.Ser61=
NM_033507.2:c.1151_1152delinsCG	NP_277042.1:p.Ser384=
NM_033508.2:c.1145_1146delinsCG	NP_277043.1:p.Ser382=
XM_024446707.1:c.8_9delinsCG	XP_024302475.1:p.Ser3=
NM_000162.5:c.1148_1149delinsCG MANE Select	NP_000153.1:p.Ser383=
NM_033507.3:c.1151_1152delinsCG	NP_277042.1:p.Ser384=
NM_033508.3:c.1145_1146delinsCG	NP_277043.1:p.Ser382=
NM_001354803.2:c.182_183delinsCG	NP_001341732.1:p.Ser61=