Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.20619088_20619089delinsGA , CM000666.2:g.20619088_20619089delinsGA	GRCh38
NC_000004.11:g.20620711_20620712delinsGA , CM000666.1:g.20620711_20620712delinsGA	GRCh37
NC_000004.10:g.20229809_20229810delinsGA	NCBI36
NG_047105.1:g.372164_372165delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504154.6:c.79_80delinsGA MANE Select	ENSP00000422591.1:n.79_80delinsGA
ENST00000273739.9:c.79_80delinsGA	ENSP00000273739.5:n.79_80delinsGA
ENST00000503823.5:c.79_80delinsGA	ENSP00000427548.1:n.79_80delinsGA
ENST00000503837.5:c.4657_4658delinsGA	ENSP00000422261.1:n.4657_4658delinsGA
ENST00000504154.5:c.79_80delinsGA	ENSP00000422591.1:n.79_80delinsGA
ENST00000508541.1:n.2869_2870delinsGA
ENST00000512993.1:c.237-1316_237-1315delinsGA
ENST00000622093.4:c.79_80delinsGA	ENSP00000482129.1:n.79_80delinsGA
NM_001289135.1:c.79_80delinsGA	NP_001276064.1:n.79_80delinsGA
NM_001289135.2:c.79_80delinsGA	NP_001276064.1:n.79_80delinsGA
NM_001289136.1:c.79_80delinsGA	NP_001276065.1:n.79_80delinsGA
NM_001289136.2:c.79_80delinsGA	NP_001276065.1:n.79_80delinsGA
NM_004787.2:c.79_80delinsGA	NP_004778.1:n.79_80delinsGA
NM_004787.3:c.79_80delinsGA	NP_004778.1:n.79_80delinsGA
XM_005248211.2:c.79_80delinsGA	XP_005248268.1:n.79_80delinsGA
XM_006713986.2:c.79_80delinsGA	XP_006714049.1:n.79_80delinsGA
XM_011513909.1:c.79_80delinsGA	XP_011512211.1:n.79_80delinsGA
XM_011513910.1:c.79_80delinsGA	XP_011512212.1:n.79_80delinsGA
XM_005248211.3:c.79_80delinsGA	XP_005248268.1:n.79_80delinsGA
XM_006713986.3:c.79_80delinsGA	XP_006714049.1:n.79_80delinsGA
XM_011513909.2:c.79_80delinsGA	XP_011512211.1:n.79_80delinsGA
XM_011513910.2:c.79_80delinsGA	XP_011512212.2:n.79_80delinsGA
XM_017008845.1:c.79_80delinsGA	XP_016864334.1:n.79_80delinsGA
NM_004787.4:c.79_80delinsGA MANE Select	NP_004778.1:n.79_80delinsGA
NM_001289135.3:c.79_80delinsGA	NP_001276064.1:n.79_80delinsGA
NM_001289136.3:c.79_80delinsGA	NP_001276065.1:n.79_80delinsGA

HGVS	Amino-acid Change
ENST00000504154.6:c.79_80delinsGA MANE Select	ENSP00000422591.1:n.79_80delinsGA
ENST00000273739.9:c.79_80delinsGA	ENSP00000273739.5:n.79_80delinsGA
ENST00000503823.5:c.79_80delinsGA	ENSP00000427548.1:n.79_80delinsGA
ENST00000503837.5:c.4657_4658delinsGA	ENSP00000422261.1:n.4657_4658delinsGA
ENST00000504154.5:c.79_80delinsGA	ENSP00000422591.1:n.79_80delinsGA
ENST00000508541.1:n.2869_2870delinsGA
ENST00000512993.1:c.237-1316_237-1315delinsGA
ENST00000622093.4:c.79_80delinsGA	ENSP00000482129.1:n.79_80delinsGA
NM_001289135.1:c.79_80delinsGA	NP_001276064.1:n.79_80delinsGA
NM_001289135.2:c.79_80delinsGA	NP_001276064.1:n.79_80delinsGA
NM_001289136.1:c.79_80delinsGA	NP_001276065.1:n.79_80delinsGA
NM_001289136.2:c.79_80delinsGA	NP_001276065.1:n.79_80delinsGA
NM_004787.2:c.79_80delinsGA	NP_004778.1:n.79_80delinsGA
NM_004787.3:c.79_80delinsGA	NP_004778.1:n.79_80delinsGA
XM_005248211.2:c.79_80delinsGA	XP_005248268.1:n.79_80delinsGA
XM_006713986.2:c.79_80delinsGA	XP_006714049.1:n.79_80delinsGA
XM_011513909.1:c.79_80delinsGA	XP_011512211.1:n.79_80delinsGA
XM_011513910.1:c.79_80delinsGA	XP_011512212.1:n.79_80delinsGA
XM_005248211.3:c.79_80delinsGA	XP_005248268.1:n.79_80delinsGA
XM_006713986.3:c.79_80delinsGA	XP_006714049.1:n.79_80delinsGA
XM_011513909.2:c.79_80delinsGA	XP_011512211.1:n.79_80delinsGA
XM_011513910.2:c.79_80delinsGA	XP_011512212.2:n.79_80delinsGA
XM_017008845.1:c.79_80delinsGA	XP_016864334.1:n.79_80delinsGA
NM_004787.4:c.79_80delinsGA MANE Select	NP_004778.1:n.79_80delinsGA
NM_001289135.3:c.79_80delinsGA	NP_001276064.1:n.79_80delinsGA
NM_001289136.3:c.79_80delinsGA	NP_001276065.1:n.79_80delinsGA