Canonical Allele Identifier: CA775081893

Gene: GALK1

Linked Data

• dbSNP Id: rs1420243207
• gnomAD v3: 17-75764531-G-GT
• gnomAD v4: 17-75764531-G-GT
• MyVariant Identifiers: chr17:g.73760612_73760613insT (hg19) ; chr17:g.75764531_75764532insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75764533dup , CM000679.2:g.75764533dup	GRCh38
NC_000017.10:g.73760614dup , CM000679.1:g.73760614dup	GRCh37
NC_000017.9:g.71272209dup	NCBI36
NG_008079.1:g.5668dup
NG_008079.2:g.5668dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587707.2:c.165+440dup	ENSP00000468341.2:n.165+440dup
ENST00000592997.6:c.165+440dup	ENSP00000464765.2:n.165+440dup
ENST00000588479.6:c.165+440dup MANE Select	ENSP00000465930.1:n.165+440dup
ENST00000225614.6:c.165+440dup	ENSP00000225614.1:n.165+440dup
ENST00000586244.1:c.165+440dup	ENSP00000468288.1:n.165+440dup
ENST00000588479.5:c.165+440dup	ENSP00000465930.1:n.165+440dup
ENST00000589030.1:n.162+440dup
ENST00000592494.1:n.186+440dup
NM_000154.1:c.165+440dup	NP_000145.1:n.165+440dup
NM_000154.2:c.165+440dup MANE Select	NP_000145.1:n.165+440dup
NM_001381985.1:c.165+440dup	NP_001368914.1:n.165+440dup