Canonical Allele Identifier: CA2576094742

Gene: GALNS

Linked Data

• gnomAD v4: 16-88840991-C-CCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88840993_88840994dup , CM000678.2:g.88840993_88840994dup	GRCh38
NC_000016.9:g.88907401_88907402dup , CM000678.1:g.88907401_88907402dup	GRCh37
NC_000016.8:g.87434902_87434903dup	NCBI36
NG_008667.1:g.20974_20975dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.421_422dup MANE Select	ENSP00000268695.5:p.Trp141CysfsTer13
ENST00000268695.9:c.421_422dup	ENSP00000268695.5:p.Trp141CysfsTer13
ENST00000562593.5:n.3830_3831dup
ENST00000562831.1:c.205_206dup	ENSP00000455174.1:p.Trp69CysfsTer13
ENST00000565364.1:n.556_557dup
ENST00000567525.5:c.246_247dup	ENSP00000454484.1:n.246_247dup
ENST00000567779.1:n.251_252dup
ENST00000568613.5:c.540_541dup	ENSP00000457921.1:n.540_541dup
NM_000512.4:c.421_422dup	NP_000503.1:p.Trp141CysfsTer13
XM_005256301.2:c.421_422dup	XP_005256358.1:p.Trp141CysfsTer13
XM_005256302.1:c.439_440dup	XP_005256359.1:p.Trp147CysfsTer13
XM_011522982.1:c.439_440dup	XP_011521284.1:p.Trp147CysfsTer13
XM_011522984.1:c.439_440dup	XP_011521286.1:p.Trp147CysfsTer13
NM_001323543.1:c.-135_-134dup	NP_001310472.1:n.-135_-134dup
NM_001323544.1:c.439_440dup	NP_001310473.1:p.Trp147CysfsTer13
XM_005256301.3:c.421_422dup	XP_005256358.1:p.Trp141CysfsTer13
XM_011522982.2:c.439_440dup	XP_011521284.1:p.Trp147CysfsTer13
XM_017023111.2:c.439_440dup	XP_016878600.1:p.Trp147CysfsTer13
XM_017023112.2:c.439_440dup	XP_016878601.1:p.Trp147CysfsTer13
XM_017023113.1:c.-135_-134dup	XP_016878602.1:n.-135_-134dup
NM_000512.5:c.421_422dup MANE Select	NP_000503.1:p.Trp141CysfsTer13
NM_001323543.2:c.-135_-134dup	NP_001310472.1:n.-135_-134dup
NM_001323544.2:c.439_440dup	NP_001310473.1:p.Trp147CysfsTer13