Canonical Allele Identifier: CA2275671808

Gene: GALK1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75764885_75764887delinsACT , CM000679.2:g.75764885_75764887delinsACT	GRCh38
NC_000017.10:g.73760966_73760968delinsACT , CM000679.1:g.73760966_73760968delinsACT	GRCh37
NC_000017.9:g.71272561_71272563delinsACT	NCBI36
NG_008079.1:g.5313_5315delinsAGT
NG_008079.2:g.5313_5315delinsAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587707.2:c.165+85_165+87delinsAGT	ENSP00000468341.2:n.165+85_165+87delinsAGT
ENST00000592997.6:c.165+85_165+87delinsAGT	ENSP00000464765.2:n.165+85_165+87delinsAGT
ENST00000588479.6:c.165+85_165+87delinsAGT MANE Select	ENSP00000465930.1:n.165+85_165+87delinsAGT
ENST00000225614.6:c.165+85_165+87delinsAGT	ENSP00000225614.1:n.165+85_165+87delinsAGT
ENST00000586244.1:c.165+85_165+87delinsAGT	ENSP00000468288.1:n.165+85_165+87delinsAGT
ENST00000588479.5:c.165+85_165+87delinsAGT	ENSP00000465930.1:n.165+85_165+87delinsAGT
ENST00000589030.1:n.162+85_162+87delinsAGT
ENST00000592494.1:n.186+85_186+87delinsAGT
NM_000154.1:c.165+85_165+87delinsAGT	NP_000145.1:n.165+85_165+87delinsAGT
NM_000154.2:c.165+85_165+87delinsAGT MANE Select	NP_000145.1:n.165+85_165+87delinsAGT
NM_001381985.1:c.165+85_165+87delinsAGT	NP_001368914.1:n.165+85_165+87delinsAGT