Canonical Allele Identifier: CA2639883364

Gene: GALK1

Linked Data

• gnomAD v4: 17-75765065-GAACT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75765066_75765069del , CM000679.2:g.75765066_75765069del	GRCh38
NC_000017.10:g.73761147_73761150del , CM000679.1:g.73761147_73761150del	GRCh37
NC_000017.9:g.71272742_71272745del	NCBI36
NG_008079.1:g.5131_5134del
NG_008079.2:g.5131_5134del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587707.2:c.68_71del	ENSP00000468341.2:p.Glu23AlafsTer?
ENST00000592997.6:c.68_71del	ENSP00000464765.2:p.Glu23AlafsTer?
ENST00000588479.6:c.68_71del MANE Select	ENSP00000465930.1:p.Glu23AlafsTer?
ENST00000225614.6:c.68_71del	ENSP00000225614.1:p.Glu23AlafsTer?
ENST00000586244.1:c.68_71del	ENSP00000468288.1:p.Glu23AlafsTer?
ENST00000588479.5:c.68_71del	ENSP00000465930.1:p.Glu23AlafsTer?
ENST00000589030.1:n.65_68del
ENST00000592494.1:n.89_92del
NM_000154.1:c.68_71del	NP_000145.1:p.Glu23AlafsTer?
NM_000154.2:c.68_71del MANE Select	NP_000145.1:p.Glu23AlafsTer?
NM_001381985.1:c.68_71del	NP_001368914.1:p.Glu23AlafsTer?