Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145568_44145569delinsCG , CM000669.2:g.44145568_44145569delinsCG	GRCh38
NC_000007.13:g.44185167_44185168delinsCG , CM000669.1:g.44185167_44185168delinsCG	GRCh37
NC_000007.12:g.44151692_44151693delinsCG	NCBI36
NG_008847.1:g.48855_48856delinsCG
NG_008847.2:g.57602_57603delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.1179_1180delinsCG	ENSP00000379142.4:n.1179_1180delinsCG
ENST00000616242.5:c.301_302delinsCG	ENSP00000482149.2:n.301_302delinsCG
ENST00000683378.1:n.407_408delinsCG
ENST00000336642.9:c.215_216delinsCG	ENSP00000338009.5:p.Arg72Pro
ENST00000345378.7:c.1184_1185delinsCG	ENSP00000223366.2:p.Arg395Pro
ENST00000403799.8:c.1181_1182delinsCG MANE Select	ENSP00000384247.3:p.Arg394Pro
ENST00000671824.1:c.1244_1245delinsCG	ENSP00000500264.1:p.Arg415Pro
ENST00000672743.1:n.193_194delinsCG
ENST00000673284.1:c.1181_1182delinsCG	ENSP00000499852.1:p.Arg394Pro
ENST00000336642.8:c.233_234delinsCG	ENSP00000338009.4:p.Arg78Pro
ENST00000345378.6:c.1184_1185delinsCG	ENSP00000223366.2:p.Arg395Pro
ENST00000395796.7:c.1178_1179delinsCG	ENSP00000379142.3:p.Arg393Pro
ENST00000403799.7:c.1181_1182delinsCG	ENSP00000384247.3:p.Arg394Pro
ENST00000437084.1:c.1130_1131delinsCG	ENSP00000402840.1:p.Arg377Pro
ENST00000459642.1:n.561_562delinsCG
ENST00000616242.4:c.1178_1179delinsCG	ENSP00000482149.1:p.Arg393Pro
NM_000162.3:c.1181_1182delinsCG	NP_000153.1:p.Arg394Pro
NM_033507.1:c.1184_1185delinsCG	NP_277042.1:p.Arg395Pro
NM_033508.1:c.1178_1179delinsCG	NP_277043.1:p.Arg393Pro
NM_000162.4:c.1181_1182delinsCG	NP_000153.1:p.Arg394Pro
NM_001354800.1:c.1181_1182delinsCG	NP_001341729.1:p.Arg394Pro
NM_001354801.1:c.170_171delinsCG	NP_001341730.1:p.Arg57Pro
NM_001354802.1:c.41_42delinsCG	NP_001341731.1:p.Arg14Pro
NM_001354803.1:c.215_216delinsCG	NP_001341732.1:p.Arg72Pro
NM_033507.2:c.1184_1185delinsCG	NP_277042.1:p.Arg395Pro
NM_033508.2:c.1178_1179delinsCG	NP_277043.1:p.Arg393Pro
XM_024446707.1:c.41_42delinsCG	XP_024302475.1:p.Arg14Pro
NM_000162.5:c.1181_1182delinsCG MANE Select	NP_000153.1:p.Arg394Pro
NM_033507.3:c.1184_1185delinsCG	NP_277042.1:p.Arg395Pro
NM_033508.3:c.1178_1179delinsCG	NP_277043.1:p.Arg393Pro
NM_001354803.2:c.215_216delinsCG	NP_001341732.1:p.Arg72Pro