Canonical Allele Identifier: CA980348984

Gene: GALNS

Linked Data

• dbSNP Id: rs1912022481
• gnomAD v3: 16-88835447-AAATCAT-A
• gnomAD v4: 16-88835447-AAATCAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835450_88835455del , CM000678.2:g.88835450_88835455del	GRCh38
NC_000016.9:g.88901858_88901863del , CM000678.1:g.88901858_88901863del	GRCh37
NC_000016.8:g.87429359_87429364del	NCBI36
NG_008667.1:g.26514_26519del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.759-101_759-96del MANE Select	ENSP00000268695.5:n.759-101_759-96del
ENST00000268695.9:c.759-101_759-96del	ENSP00000268695.5:n.759-101_759-96del
ENST00000562593.5:n.4168-101_4168-96del
ENST00000562931.5:n.347-101_347-96del
ENST00000567525.5:c.440-101_440-96del	ENSP00000454484.1:n.440-101_440-96del
ENST00000568613.5:c.878-101_878-96del	ENSP00000457921.1:n.878-101_878-96del
NM_000512.4:c.759-101_759-96del	NP_000503.1:n.759-101_759-96del
XM_005256301.2:c.759-101_759-96del	XP_005256358.1:n.759-101_759-96del
XM_005256302.1:c.777-101_777-96del	XP_005256359.1:n.777-101_777-96del
XM_011522982.1:c.777-101_777-96del	XP_011521284.1:n.777-101_777-96del
XM_011522984.1:c.777-101_777-96del	XP_011521286.1:n.777-101_777-96del
NM_001323543.1:c.204-101_204-96del	NP_001310472.1:n.204-101_204-96del
NM_001323544.1:c.777-101_777-96del	NP_001310473.1:n.777-101_777-96del
XM_005256301.3:c.759-101_759-96del	XP_005256358.1:n.759-101_759-96del
XM_011522982.2:c.777-101_777-96del	XP_011521284.1:n.777-101_777-96del
XM_017023111.2:c.777-101_777-96del	XP_016878600.1:n.777-101_777-96del
XM_017023112.2:c.777-101_777-96del	XP_016878601.1:n.777-101_777-96del
XM_017023113.1:c.204-101_204-96del	XP_016878602.1:n.204-101_204-96del
NM_000512.5:c.759-101_759-96del MANE Select	NP_000503.1:n.759-101_759-96del
NM_001323543.2:c.204-101_204-96del	NP_001310472.1:n.204-101_204-96del
NM_001323544.2:c.777-101_777-96del	NP_001310473.1:n.777-101_777-96del