Canonical Allele Identifier: CA624206560

Gene: GALNS

Linked Data

• ClinVar Variation Id: 1048421
• ClinVar RCV Id: RCV001578523 ; RCV003987848
• dbSNP Id: rs1567530426
• gnomAD v2: 16-88901651-CGTTGTCCGACGTGAAGAAGACGAAGGT-C
• gnomAD v3: 16-88835243-CGTTGTCCGACGTGAAGAAGACGAAGGT-C
• gnomAD v4: 16-88835243-CGTTGTCCGACGTGAAGAAGACGAAGGT-C
• MyVariant Identifiers: chr16:g.88901652_88901678del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835252_88835278del , CM000678.2:g.88835252_88835278del	GRCh38
NC_000016.9:g.88901660_88901686del , CM000678.1:g.88901660_88901686del	GRCh37
NC_000016.8:g.87429161_87429187del	NCBI36
NG_008667.1:g.26697_26723del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.841_867del MANE Select	ENSP00000268695.5:p.Thr281_Asn289del
ENST00000268695.9:c.841_867del	ENSP00000268695.5:p.Thr281_Asn289del
ENST00000562593.5:n.4250_4276del
ENST00000562931.5:n.429_455del
ENST00000567525.5:c.522_548del	ENSP00000454484.1:n.522_548del
ENST00000568613.5:c.960_986del	ENSP00000457921.1:n.960_986del
NM_000512.4:c.841_867del	NP_000503.1:p.Thr281_Asn289del
XM_005256301.2:c.841_867del	XP_005256358.1:p.Thr281_Asn289del
XM_005256302.1:c.859_885del	XP_005256359.1:p.Thr287_Asn295del
XM_011522982.1:c.859_885del	XP_011521284.1:p.Thr287_Asn295del
XM_011522984.1:c.859_885del	XP_011521286.1:p.Thr287_Asn295del
NM_001323543.1:c.286_312del	NP_001310472.1:p.Thr96_Asn104del
NM_001323544.1:c.859_885del	NP_001310473.1:p.Thr287_Asn295del
XM_005256301.3:c.841_867del	XP_005256358.1:p.Thr281_Asn289del
XM_011522982.2:c.859_885del	XP_011521284.1:p.Thr287_Asn295del
XM_017023111.2:c.859_885del	XP_016878600.1:p.Thr287_Asn295del
XM_017023112.2:c.859_885del	XP_016878601.1:p.Thr287_Asn295del
XM_017023113.1:c.286_312del	XP_016878602.1:p.Thr96_Asn104del
NM_000512.5:c.841_867del MANE Select	NP_000503.1:p.Thr281_Asn289del
NM_001323543.2:c.286_312del	NP_001310472.1:p.Thr96_Asn104del
NM_001323544.2:c.859_885del	NP_001310473.1:p.Thr287_Asn295del