Canonical Allele Identifier: CA2275671624

Gene: GALK1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75764553_75764555delinsTCA , CM000679.2:g.75764553_75764555delinsTCA	GRCh38
NC_000017.10:g.73760634_73760636delinsTCA , CM000679.1:g.73760634_73760636delinsTCA	GRCh37
NC_000017.9:g.71272229_71272231delinsTCA	NCBI36
NG_008079.1:g.5645_5647delinsTGA
NG_008079.2:g.5645_5647delinsTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587707.2:c.165+417_165+419delinsTGA	ENSP00000468341.2:n.165+417_165+419delinsTGA
ENST00000592997.6:c.165+417_165+419delinsTGA	ENSP00000464765.2:n.165+417_165+419delinsTGA
ENST00000588479.6:c.165+417_165+419delinsTGA MANE Select	ENSP00000465930.1:n.165+417_165+419delinsTGA
ENST00000225614.6:c.165+417_165+419delinsTGA	ENSP00000225614.1:n.165+417_165+419delinsTGA
ENST00000586244.1:c.165+417_165+419delinsTGA	ENSP00000468288.1:n.165+417_165+419delinsTGA
ENST00000588479.5:c.165+417_165+419delinsTGA	ENSP00000465930.1:n.165+417_165+419delinsTGA
ENST00000589030.1:n.162+417_162+419delinsTGA
ENST00000592494.1:n.186+417_186+419delinsTGA
NM_000154.1:c.165+417_165+419delinsTGA	NP_000145.1:n.165+417_165+419delinsTGA
NM_000154.2:c.165+417_165+419delinsTGA MANE Select	NP_000145.1:n.165+417_165+419delinsTGA
NM_001381985.1:c.165+417_165+419delinsTGA	NP_001368914.1:n.165+417_165+419delinsTGA