Canonical Allele Identifier: CA2697556013

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88818073_88818094dup , CM000678.2:g.88818073_88818094dup	GRCh38
NC_000016.9:g.88884481_88884502dup , CM000678.1:g.88884481_88884502dup	GRCh37
NC_000016.8:g.87411982_87412003dup	NCBI36
NG_008667.1:g.43879_43900dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.1401_1422dup MANE Select	NP_000503.1:p.His475AspfsTer35
ENST00000268695.10:c.1401_1422dup MANE Select	ENSP00000268695.5:p.His475AspfsTer35
NM_000512.4:c.1401_1422dup	NP_000503.1:p.His475AspfsTer35
NM_001323543.1:c.846_867dup	NP_001310472.1:p.His290AspfsTer35
NM_001323543.2:c.846_867dup	NP_001310472.1:p.His290AspfsTer35
NM_001323544.1:c.1419_1440dup	NP_001310473.1:p.His481AspfsTer35
NM_001323544.2:c.1419_1440dup	NP_001310473.1:p.His481AspfsTer35
ENST00000268695.9:c.1401_1422dup	ENSP00000268695.5:p.His475AspfsTer35
ENST00000562593.5:n.4810_4831dup
ENST00000567525.5:c.1082_1103dup	ENSP00000454484.1:n.1082_1103dup
ENST00000568613.5:c.1520_1541dup	ENSP00000457921.1:n.1520_1541dup
XM_005256301.2:c.1401_1422dup	XP_005256358.1:p.His475AspfsTer?
XM_005256301.3:c.1401_1422dup	XP_005256358.1:p.His475AspfsTer?
XM_005256302.1:c.1419_1440dup	XP_005256359.1:p.His481AspfsTer35
XM_011522982.1:c.1419_1440dup	XP_011521284.1:p.His481AspfsTer?
XM_011522982.2:c.1419_1440dup	XP_011521284.1:p.His481AspfsTer?
XM_011522984.1:c.1419_1440dup	XP_011521286.1:p.His481AspfsTer?
XM_017023111.2:c.1419_1440dup	XP_016878600.1:p.His481AspfsTer31
XM_017023112.2:c.1419_1440dup	XP_016878601.1:p.His481AspfsTer?
XM_017023113.1:c.846_867dup	XP_016878602.1:p.His290AspfsTer?