Canonical Allele Identifier: CA294089535

Gene: GALK1

Linked Data

• dbSNP Id: rs574322744
• gnomAD v2: 17-73760970-G-GC
• gnomAD v3: 17-75764889-G-GC
• gnomAD v4: 17-75764889-G-GC
• MyVariant Identifiers: chr17:g.73760970_73760971insC (hg19) ; chr17:g.75764889_75764890insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75764894dup , CM000679.2:g.75764894dup	GRCh38
NC_000017.10:g.73760975dup , CM000679.1:g.73760975dup	GRCh37
NC_000017.9:g.71272570dup	NCBI36
NG_008079.1:g.5310dup
NG_008079.2:g.5310dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000587707.2:c.165+82dup	ENSP00000468341.2:n.165+82dup
ENST00000592997.6:c.165+82dup	ENSP00000464765.2:n.165+82dup
ENST00000588479.6:c.165+82dup MANE Select	ENSP00000465930.1:n.165+82dup
ENST00000225614.6:c.165+82dup	ENSP00000225614.1:n.165+82dup
ENST00000586244.1:c.165+82dup	ENSP00000468288.1:n.165+82dup
ENST00000588479.5:c.165+82dup	ENSP00000465930.1:n.165+82dup
ENST00000589030.1:n.162+82dup
ENST00000592494.1:n.186+82dup
NM_000154.1:c.165+82dup	NP_000145.1:n.165+82dup
NM_000154.2:c.165+82dup MANE Select	NP_000145.1:n.165+82dup
NM_001381985.1:c.165+82dup	NP_001368914.1:n.165+82dup