Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145600_44145617delinsCCGAGCACATGTGCGCAG , CM000669.2:g.44145600_44145617delinsCCGAGCACATGTGCGCAG	GRCh38
NC_000007.13:g.44185199_44185216delinsCCGAGCACATGTGCGCAG , CM000669.1:g.44185199_44185216delinsCCGAGCACATGTGCGCAG	GRCh37
NC_000007.12:g.44151724_44151741delinsCCGAGCACATGTGCGCAG	NCBI36
NG_008847.1:g.48807_48824delinsCTGCGCACATGTGCTCGG
NG_008847.2:g.57554_57571delinsCTGCGCACATGTGCTCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.1131_1148delinsCTGCGCACATGTGCTCGG	ENSP00000379142.4:n.1131_1148delinsCTGCGCACATGTGCTCGG
ENST00000616242.5:c.253_270delinsCTGCGCACATGTGCTCGG	ENSP00000482149.2:n.253_270delinsCTGCGCACATGTGCTCGG
ENST00000683378.1:n.359_376delinsCTGCGCACATGTGCTCGG
ENST00000336642.9:c.167_184delinsCTGCGCACATGTGCTCGG	ENSP00000338009.5:p.Ala56=
ENST00000345378.7:c.1136_1153delinsCTGCGCACATGTGCTCGG	ENSP00000223366.2:p.Ala379=
ENST00000403799.8:c.1133_1150delinsCTGCGCACATGTGCTCGG MANE Select	ENSP00000384247.3:p.Ala378=
ENST00000671824.1:c.1196_1213delinsCTGCGCACATGTGCTCGG	ENSP00000500264.1:p.Ala399=
ENST00000672743.1:n.145_162delinsCTGCGCACATGTGCTCGG
ENST00000673284.1:c.1133_1150delinsCTGCGCACATGTGCTCGG	ENSP00000499852.1:p.Ala378=
ENST00000336642.8:c.185_202delinsCTGCGCACATGTGCTCGG	ENSP00000338009.4:p.Ala62=
ENST00000345378.6:c.1136_1153delinsCTGCGCACATGTGCTCGG	ENSP00000223366.2:p.Ala379=
ENST00000395796.7:c.1130_1147delinsCTGCGCACATGTGCTCGG	ENSP00000379142.3:p.Ala377=
ENST00000403799.7:c.1133_1150delinsCTGCGCACATGTGCTCGG	ENSP00000384247.3:p.Ala378=
ENST00000437084.1:c.1082_1099delinsCTGCGCACATGTGCTCGG	ENSP00000402840.1:p.Ala361=
ENST00000459642.1:n.513_530delinsCTGCGCACATGTGCTCGG
ENST00000616242.4:c.1130_1147delinsCTGCGCACATGTGCTCGG	ENSP00000482149.1:p.Ala377=
NM_000162.3:c.1133_1150delinsCTGCGCACATGTGCTCGG	NP_000153.1:p.Ala378=
NM_033507.1:c.1136_1153delinsCTGCGCACATGTGCTCGG	NP_277042.1:p.Ala379=
NM_033508.1:c.1130_1147delinsCTGCGCACATGTGCTCGG	NP_277043.1:p.Ala377=
NM_000162.4:c.1133_1150delinsCTGCGCACATGTGCTCGG	NP_000153.1:p.Ala378=
NM_001354800.1:c.1133_1150delinsCTGCGCACATGTGCTCGG	NP_001341729.1:p.Ala378=
NM_001354801.1:c.122_139delinsCTGCGCACATGTGCTCGG	NP_001341730.1:p.Ala41=
NM_001354802.1:c.-8_10delinsCTGCGCACATGTGCTCGG
NM_001354803.1:c.167_184delinsCTGCGCACATGTGCTCGG	NP_001341732.1:p.Ala56=
NM_033507.2:c.1136_1153delinsCTGCGCACATGTGCTCGG	NP_277042.1:p.Ala379=
NM_033508.2:c.1130_1147delinsCTGCGCACATGTGCTCGG	NP_277043.1:p.Ala377=
XM_024446707.1:c.-8_10delinsCTGCGCACATGTGCTCGG
NM_000162.5:c.1133_1150delinsCTGCGCACATGTGCTCGG MANE Select	NP_000153.1:p.Ala378=
NM_033507.3:c.1136_1153delinsCTGCGCACATGTGCTCGG	NP_277042.1:p.Ala379=
NM_033508.3:c.1130_1147delinsCTGCGCACATGTGCTCGG	NP_277043.1:p.Ala377=
NM_001354803.2:c.167_184delinsCTGCGCACATGTGCTCGG	NP_001341732.1:p.Ala56=