Canonical Allele Identifier: CA916079746

Gene: GALNS

Linked Data

• ClinVar Variation Id: 1048321
• ClinVar RCV Id: RCV001578421
• dbSNP Id: rs2142993865
• gnomAD v4: 16-88824840-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88824841del , CM000678.2:g.88824841del	GRCh38
NC_000016.9:g.88891249del , CM000678.1:g.88891249del	GRCh37
NC_000016.8:g.87418750del	NCBI36
NG_008667.1:g.37126del

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.1168del MANE Select	ENSP00000268695.5:p.Leu390Ter
ENST00000268695.9:c.1168del	ENSP00000268695.5:p.Leu390Ter
ENST00000562593.5:n.4577del
ENST00000564263.1:n.444del
ENST00000567525.5:c.849del	ENSP00000454484.1:n.849del
ENST00000568613.5:c.1287del	ENSP00000457921.1:n.1287del
NM_000512.4:c.1168del	NP_000503.1:p.Leu390Ter
XM_005256301.2:c.1168del	XP_005256358.1:p.Leu390Ter
XM_005256302.1:c.1186del	XP_005256359.1:p.Leu396Ter
XM_011522982.1:c.1186del	XP_011521284.1:p.Leu396Ter
XM_011522984.1:c.1186del	XP_011521286.1:p.Leu396Ter
NM_001323543.1:c.613del	NP_001310472.1:p.Leu205Ter
NM_001323544.1:c.1186del	NP_001310473.1:p.Leu396Ter
XM_005256301.3:c.1168del	XP_005256358.1:p.Leu390Ter
XM_011522982.2:c.1186del	XP_011521284.1:p.Leu396Ter
XM_017023111.2:c.1186del	XP_016878600.1:p.Leu396Ter
XM_017023112.2:c.1186del	XP_016878601.1:p.Leu396Ter
XM_017023113.1:c.613del	XP_016878602.1:p.Leu205Ter
NM_000512.5:c.1168del MANE Select	NP_000503.1:p.Leu390Ter
NM_001323543.2:c.613del	NP_001310472.1:p.Leu205Ter
NM_001323544.2:c.1186del	NP_001310473.1:p.Leu396Ter