Canonical Allele Identifier: CA294089409

Gene: GALK1

Linked Data

• dbSNP Id: rs769563449
• gnomAD v4: 17-75764553-TCA-T
• MyVariant Identifiers: chr17:g.73760635_73760636del (hg19) ; chr17:g.75764554_75764555del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75764554_75764555del , CM000679.2:g.75764554_75764555del	GRCh38
NC_000017.10:g.73760635_73760636del , CM000679.1:g.73760635_73760636del	GRCh37
NC_000017.9:g.71272230_71272231del	NCBI36
NG_008079.1:g.5645_5646del
NG_008079.2:g.5645_5646del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587707.2:c.165+417_165+418del	ENSP00000468341.2:n.165+417_165+418del
ENST00000592997.6:c.165+417_165+418del	ENSP00000464765.2:n.165+417_165+418del
ENST00000588479.6:c.165+417_165+418del MANE Select	ENSP00000465930.1:n.165+417_165+418del
ENST00000225614.6:c.165+417_165+418del	ENSP00000225614.1:n.165+417_165+418del
ENST00000586244.1:c.165+417_165+418del	ENSP00000468288.1:n.165+417_165+418del
ENST00000588479.5:c.165+417_165+418del	ENSP00000465930.1:n.165+417_165+418del
ENST00000589030.1:n.162+417_162+418del
ENST00000592494.1:n.186+417_186+418del
NM_000154.1:c.165+417_165+418del	NP_000145.1:n.165+417_165+418del
NM_000154.2:c.165+417_165+418del MANE Select	NP_000145.1:n.165+417_165+418del
NM_001381985.1:c.165+417_165+418del	NP_001368914.1:n.165+417_165+418del