Canonical Allele Identifier: CA627416689

Gene: GALK1

Linked Data

• dbSNP Id: rs1169154135
• gnomAD v2: 17-73760799-GC-G
• gnomAD v4: 17-75764718-GC-G
• MyVariant Identifiers: chr17:g.73760800del (hg19) ; chr17:g.75764719del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75764722del , CM000679.2:g.75764722del	GRCh38
NC_000017.10:g.73760803del , CM000679.1:g.73760803del	GRCh37
NC_000017.9:g.71272398del	NCBI36
NG_008079.1:g.5481del
NG_008079.2:g.5481del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587707.2:c.165+253del	ENSP00000468341.2:n.165+253del
ENST00000592997.6:c.165+253del	ENSP00000464765.2:n.165+253del
ENST00000588479.6:c.165+253del MANE Select	ENSP00000465930.1:n.165+253del
ENST00000225614.6:c.165+253del	ENSP00000225614.1:n.165+253del
ENST00000586244.1:c.165+253del	ENSP00000468288.1:n.165+253del
ENST00000588479.5:c.165+253del	ENSP00000465930.1:n.165+253del
ENST00000589030.1:n.162+253del
ENST00000592494.1:n.186+253del
NM_000154.1:c.165+253del	NP_000145.1:n.165+253del
NM_000154.2:c.165+253del MANE Select	NP_000145.1:n.165+253del
NM_001381985.1:c.165+253del	NP_001368914.1:n.165+253del