Canonical Allele Identifier: CA980349042

Gene: GALNS

Linked Data

• gnomAD v3: 16-88835646-G-GAT
• gnomAD v4: 16-88835646-G-GAT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835646_88835647insAT , CM000678.2:g.88835646_88835647insAT	GRCh38
NC_000016.9:g.88902054_88902055insAT , CM000678.1:g.88902054_88902055insAT	GRCh37
NC_000016.8:g.87429555_87429556insAT	NCBI36
NG_008667.1:g.26320_26321insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.758+78_758+79insAT MANE Select	ENSP00000268695.5:n.758+78_758+79insAT
ENST00000268695.9:c.758+78_758+79insAT	ENSP00000268695.5:n.758+78_758+79insAT
ENST00000562593.5:n.4167+78_4167+79insAT
ENST00000562931.5:n.346+78_346+79insAT
ENST00000567525.5:c.439+78_439+79insAT	ENSP00000454484.1:n.439+78_439+79insAT
ENST00000568613.5:c.877+78_877+79insAT	ENSP00000457921.1:n.877+78_877+79insAT
NM_000512.4:c.758+78_758+79insAT	NP_000503.1:n.758+78_758+79insAT
XM_005256301.2:c.758+78_758+79insAT	XP_005256358.1:n.758+78_758+79insAT
XM_005256302.1:c.776+78_776+79insAT	XP_005256359.1:n.776+78_776+79insAT
XM_011522982.1:c.776+78_776+79insAT	XP_011521284.1:n.776+78_776+79insAT
XM_011522984.1:c.776+78_776+79insAT	XP_011521286.1:n.776+78_776+79insAT
NM_001323543.1:c.203+78_203+79insAT	NP_001310472.1:n.203+78_203+79insAT
NM_001323544.1:c.776+78_776+79insAT	NP_001310473.1:n.776+78_776+79insAT
XM_005256301.3:c.758+78_758+79insAT	XP_005256358.1:n.758+78_758+79insAT
XM_011522982.2:c.776+78_776+79insAT	XP_011521284.1:n.776+78_776+79insAT
XM_017023111.2:c.776+78_776+79insAT	XP_016878600.1:n.776+78_776+79insAT
XM_017023112.2:c.776+78_776+79insAT	XP_016878601.1:n.776+78_776+79insAT
XM_017023113.1:c.203+78_203+79insAT	XP_016878602.1:n.203+78_203+79insAT
NM_000512.5:c.758+78_758+79insAT MANE Select	NP_000503.1:n.758+78_758+79insAT
NM_001323543.2:c.203+78_203+79insAT	NP_001310472.1:n.203+78_203+79insAT
NM_001323544.2:c.776+78_776+79insAT	NP_001310473.1:n.776+78_776+79insAT