Canonical Allele Identifier: CA980349036

Gene: GALNS

Linked Data

• gnomAD v3: 16-88835643-ACGG-A
• gnomAD v4: 16-88835643-ACGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835644_88835646del , CM000678.2:g.88835644_88835646del	GRCh38
NC_000016.9:g.88902052_88902054del , CM000678.1:g.88902052_88902054del	GRCh37
NC_000016.8:g.87429553_87429555del	NCBI36
NG_008667.1:g.26321_26323del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.758+79_758+81del MANE Select	ENSP00000268695.5:n.758+79_758+81del
ENST00000268695.9:c.758+79_758+81del	ENSP00000268695.5:n.758+79_758+81del
ENST00000562593.5:n.4167+79_4167+81del
ENST00000562931.5:n.346+79_346+81del
ENST00000567525.5:c.439+79_439+81del	ENSP00000454484.1:n.439+79_439+81del
ENST00000568613.5:c.877+79_877+81del	ENSP00000457921.1:n.877+79_877+81del
NM_000512.4:c.758+79_758+81del	NP_000503.1:n.758+79_758+81del
XM_005256301.2:c.758+79_758+81del	XP_005256358.1:n.758+79_758+81del
XM_005256302.1:c.776+79_776+81del	XP_005256359.1:n.776+79_776+81del
XM_011522982.1:c.776+79_776+81del	XP_011521284.1:n.776+79_776+81del
XM_011522984.1:c.776+79_776+81del	XP_011521286.1:n.776+79_776+81del
NM_001323543.1:c.203+79_203+81del	NP_001310472.1:n.203+79_203+81del
NM_001323544.1:c.776+79_776+81del	NP_001310473.1:n.776+79_776+81del
XM_005256301.3:c.758+79_758+81del	XP_005256358.1:n.758+79_758+81del
XM_011522982.2:c.776+79_776+81del	XP_011521284.1:n.776+79_776+81del
XM_017023111.2:c.776+79_776+81del	XP_016878600.1:n.776+79_776+81del
XM_017023112.2:c.776+79_776+81del	XP_016878601.1:n.776+79_776+81del
XM_017023113.1:c.203+79_203+81del	XP_016878602.1:n.203+79_203+81del
NM_000512.5:c.758+79_758+81del MANE Select	NP_000503.1:n.758+79_758+81del
NM_001323543.2:c.203+79_203+81del	NP_001310472.1:n.203+79_203+81del
NM_001323544.2:c.776+79_776+81del	NP_001310473.1:n.776+79_776+81del