Canonical Allele Identifier: CA624207053

Gene: GALNS

Linked Data

• ClinVar Variation Id: 1048416
• ClinVar RCV Id: RCV001384617
• dbSNP Id: rs1382823339
• gnomAD v2: 16-88902637-TC-T
• gnomAD v3: 16-88836229-TC-T
• gnomAD v4: 16-88836229-TC-T
• MyVariant Identifiers: chr16:g.88902638del (hg19) ; chr16:g.88836230del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88836234del , CM000678.2:g.88836234del	GRCh38
NC_000016.9:g.88902642del , CM000678.1:g.88902642del	GRCh37
NC_000016.8:g.87430143del	NCBI36
NG_008667.1:g.25737del

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.604del MANE Select	ENSP00000268695.5:p.Glu202LysfsTer?
ENST00000268695.9:c.604del	ENSP00000268695.5:p.Glu202LysfsTer?
ENST00000562593.5:n.4013del
ENST00000562831.1:c.388del	ENSP00000455174.1:p.Glu130LysfsTer?
ENST00000562931.5:n.192del
ENST00000566563.1:n.306del
ENST00000567525.5:c.285del	ENSP00000454484.1:n.285del
ENST00000568613.5:c.723del	ENSP00000457921.1:n.723del
NM_000512.4:c.604del	NP_000503.1:p.Glu202LysfsTer?
XM_005256301.2:c.604del	XP_005256358.1:p.Glu202LysfsTer?
XM_005256302.1:c.622del	XP_005256359.1:p.Glu208LysfsTer?
XM_011522982.1:c.622del	XP_011521284.1:p.Glu208LysfsTer?
XM_011522984.1:c.622del	XP_011521286.1:p.Glu208LysfsTer?
NM_001323543.1:c.49del	NP_001310472.1:p.Glu17LysfsTer?
NM_001323544.1:c.622del	NP_001310473.1:p.Glu208LysfsTer?
XM_005256301.3:c.604del	XP_005256358.1:p.Glu202LysfsTer?
XM_011522982.2:c.622del	XP_011521284.1:p.Glu208LysfsTer?
XM_017023111.2:c.622del	XP_016878600.1:p.Glu208LysfsTer?
XM_017023112.2:c.622del	XP_016878601.1:p.Glu208LysfsTer?
XM_017023113.1:c.49del	XP_016878602.1:p.Glu17LysfsTer?
NM_000512.5:c.604del MANE Select	NP_000503.1:p.Glu202LysfsTer?
NM_001323543.2:c.49del	NP_001310472.1:p.Glu17LysfsTer?
NM_001323544.2:c.622del	NP_001310473.1:p.Glu208LysfsTer?