Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.20619149_20619150delinsCT , CM000666.2:g.20619149_20619150delinsCT	GRCh38
NC_000004.11:g.20620772_20620773delinsCT , CM000666.1:g.20620772_20620773delinsCT	GRCh37
NC_000004.10:g.20229870_20229871delinsCT	NCBI36
NG_047105.1:g.372225_372226delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504154.6:c.140_141delinsCT MANE Select	ENSP00000422591.1:n.140_141delinsCT
ENST00000273739.9:c.140_141delinsCT	ENSP00000273739.5:n.140_141delinsCT
ENST00000503837.5:c.4718_4719delinsCT	ENSP00000422261.1:n.4718_4719delinsCT
ENST00000504154.5:c.140_141delinsCT	ENSP00000422591.1:n.140_141delinsCT
ENST00000508541.1:n.2930_2931delinsCT
ENST00000512993.1:c.237-1255_237-1254delinsCT
ENST00000622093.4:c.140_141delinsCT	ENSP00000482129.1:n.140_141delinsCT
NM_001289135.1:c.140_141delinsCT	NP_001276064.1:n.140_141delinsCT
NM_001289135.2:c.140_141delinsCT	NP_001276064.1:n.140_141delinsCT
NM_001289136.1:c.140_141delinsCT	NP_001276065.1:n.140_141delinsCT
NM_001289136.2:c.140_141delinsCT	NP_001276065.1:n.140_141delinsCT
NM_004787.2:c.140_141delinsCT	NP_004778.1:n.140_141delinsCT
NM_004787.3:c.140_141delinsCT	NP_004778.1:n.140_141delinsCT
XM_005248211.2:c.140_141delinsCT	XP_005248268.1:n.140_141delinsCT
XM_006713986.2:c.140_141delinsCT	XP_006714049.1:n.140_141delinsCT
XM_011513909.1:c.140_141delinsCT	XP_011512211.1:n.140_141delinsCT
XM_011513910.1:c.140_141delinsCT	XP_011512212.1:n.140_141delinsCT
XM_005248211.3:c.140_141delinsCT	XP_005248268.1:n.140_141delinsCT
XM_006713986.3:c.140_141delinsCT	XP_006714049.1:n.140_141delinsCT
XM_011513909.2:c.140_141delinsCT	XP_011512211.1:n.140_141delinsCT
XM_011513910.2:c.140_141delinsCT	XP_011512212.2:n.140_141delinsCT
XM_017008845.1:c.140_141delinsCT	XP_016864334.1:n.140_141delinsCT
NM_004787.4:c.140_141delinsCT MANE Select	NP_004778.1:n.140_141delinsCT
NM_001289135.3:c.140_141delinsCT	NP_001276064.1:n.140_141delinsCT
NM_001289136.3:c.140_141delinsCT	NP_001276065.1:n.140_141delinsCT

HGVS	Amino-acid Change
ENST00000504154.6:c.140_141delinsCT MANE Select	ENSP00000422591.1:n.140_141delinsCT
ENST00000273739.9:c.140_141delinsCT	ENSP00000273739.5:n.140_141delinsCT
ENST00000503837.5:c.4718_4719delinsCT	ENSP00000422261.1:n.4718_4719delinsCT
ENST00000504154.5:c.140_141delinsCT	ENSP00000422591.1:n.140_141delinsCT
ENST00000508541.1:n.2930_2931delinsCT
ENST00000512993.1:c.237-1255_237-1254delinsCT
ENST00000622093.4:c.140_141delinsCT	ENSP00000482129.1:n.140_141delinsCT
NM_001289135.1:c.140_141delinsCT	NP_001276064.1:n.140_141delinsCT
NM_001289135.2:c.140_141delinsCT	NP_001276064.1:n.140_141delinsCT
NM_001289136.1:c.140_141delinsCT	NP_001276065.1:n.140_141delinsCT
NM_001289136.2:c.140_141delinsCT	NP_001276065.1:n.140_141delinsCT
NM_004787.2:c.140_141delinsCT	NP_004778.1:n.140_141delinsCT
NM_004787.3:c.140_141delinsCT	NP_004778.1:n.140_141delinsCT
XM_005248211.2:c.140_141delinsCT	XP_005248268.1:n.140_141delinsCT
XM_006713986.2:c.140_141delinsCT	XP_006714049.1:n.140_141delinsCT
XM_011513909.1:c.140_141delinsCT	XP_011512211.1:n.140_141delinsCT
XM_011513910.1:c.140_141delinsCT	XP_011512212.1:n.140_141delinsCT
XM_005248211.3:c.140_141delinsCT	XP_005248268.1:n.140_141delinsCT
XM_006713986.3:c.140_141delinsCT	XP_006714049.1:n.140_141delinsCT
XM_011513909.2:c.140_141delinsCT	XP_011512211.1:n.140_141delinsCT
XM_011513910.2:c.140_141delinsCT	XP_011512212.2:n.140_141delinsCT
XM_017008845.1:c.140_141delinsCT	XP_016864334.1:n.140_141delinsCT
NM_004787.4:c.140_141delinsCT MANE Select	NP_004778.1:n.140_141delinsCT
NM_001289135.3:c.140_141delinsCT	NP_001276064.1:n.140_141delinsCT
NM_001289136.3:c.140_141delinsCT	NP_001276065.1:n.140_141delinsCT