Canonical Allele Identifier: CA8234958

Gene: GALNS

Linked Data

• ClinVar Variation Id: 1048423
• ClinVar RCV Id: RCV001578525 ; RCV001685351 ; RCV003388001
• dbSNP Id: rs768664270
• ExAC: 16:88901663 TGAA / T
• gnomAD v2: 16-88901663-TGAA-T
• gnomAD v4: 16-88835255-TGAA-T
• MyVariant Identifiers: chr16:g.88901664_88901666del (hg19) ; chr16:g.88835256_88835258del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835261_88835263del , CM000678.2:g.88835261_88835263del	GRCh38
NC_000016.9:g.88901669_88901671del , CM000678.1:g.88901669_88901671del	GRCh37
NC_000016.8:g.87429170_87429172del	NCBI36
NG_008667.1:g.26709_26711del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.853_855del MANE Select	ENSP00000268695.5:p.Phe285del
ENST00000268695.9:c.853_855del	ENSP00000268695.5:p.Phe285del
ENST00000562593.5:n.4262_4264del
ENST00000562931.5:n.441_443del
ENST00000567525.5:c.534_536del	ENSP00000454484.1:n.534_536del
ENST00000568613.5:c.972_974del	ENSP00000457921.1:n.972_974del
NM_000512.4:c.853_855del	NP_000503.1:p.Phe285del
XM_005256301.2:c.853_855del	XP_005256358.1:p.Phe285del
XM_005256302.1:c.871_873del	XP_005256359.1:p.Phe291del
XM_011522982.1:c.871_873del	XP_011521284.1:p.Phe291del
XM_011522984.1:c.871_873del	XP_011521286.1:p.Phe291del
NM_001323543.1:c.298_300del	NP_001310472.1:p.Phe100del
NM_001323544.1:c.871_873del	NP_001310473.1:p.Phe291del
XM_005256301.3:c.853_855del	XP_005256358.1:p.Phe285del
XM_011522982.2:c.871_873del	XP_011521284.1:p.Phe291del
XM_017023111.2:c.871_873del	XP_016878600.1:p.Phe291del
XM_017023112.2:c.871_873del	XP_016878601.1:p.Phe291del
XM_017023113.1:c.298_300del	XP_016878602.1:p.Phe100del
NM_000512.5:c.853_855del MANE Select	NP_000503.1:p.Phe285del
NM_001323543.2:c.298_300del	NP_001310472.1:p.Phe100del
NM_001323544.2:c.871_873del	NP_001310473.1:p.Phe291del