Canonical Allele Identifier: CA2241319049

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88826995_88826996delinsAG , CM000678.2:g.88826995_88826996delinsAG	GRCh38
NC_000016.9:g.88893403_88893404delinsAG , CM000678.1:g.88893403_88893404delinsAG	GRCh37
NC_000016.8:g.87420904_87420905delinsAG	NCBI36
NG_008667.1:g.34971_34972delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.1003-158_1003-157delinsCT MANE Select	ENSP00000268695.5:n.1003-158_1003-157delinsCT
ENST00000268695.9:c.1003-158_1003-157delinsCT	ENSP00000268695.5:n.1003-158_1003-157delinsCT
ENST00000562593.5:n.4412-158_4412-157delinsCT
ENST00000564263.1:n.121_122delinsCT
ENST00000567525.5:c.684-158_684-157delinsCT	ENSP00000454484.1:n.684-158_684-157delinsCT
ENST00000568613.5:c.1122-158_1122-157delinsCT	ENSP00000457921.1:n.1122-158_1122-157delinsCT
NM_000512.4:c.1003-158_1003-157delinsCT	NP_000503.1:n.1003-158_1003-157delinsCT
XM_005256301.2:c.1003-158_1003-157delinsCT	XP_005256358.1:n.1003-158_1003-157delinsCT
XM_005256302.1:c.1021-158_1021-157delinsCT	XP_005256359.1:n.1021-158_1021-157delinsCT
XM_011522982.1:c.1021-158_1021-157delinsCT	XP_011521284.1:n.1021-158_1021-157delinsCT
XM_011522984.1:c.1021-158_1021-157delinsCT	XP_011521286.1:n.1021-158_1021-157delinsCT
NM_001323543.1:c.448-158_448-157delinsCT	NP_001310472.1:n.448-158_448-157delinsCT
NM_001323544.1:c.1021-158_1021-157delinsCT	NP_001310473.1:n.1021-158_1021-157delinsCT
XM_005256301.3:c.1003-158_1003-157delinsCT	XP_005256358.1:n.1003-158_1003-157delinsCT
XM_011522982.2:c.1021-158_1021-157delinsCT	XP_011521284.1:n.1021-158_1021-157delinsCT
XM_017023111.2:c.1021-158_1021-157delinsCT	XP_016878600.1:n.1021-158_1021-157delinsCT
XM_017023112.2:c.1021-158_1021-157delinsCT	XP_016878601.1:n.1021-158_1021-157delinsCT
XM_017023113.1:c.448-158_448-157delinsCT	XP_016878602.1:n.448-158_448-157delinsCT
NM_000512.5:c.1003-158_1003-157delinsCT MANE Select	NP_000503.1:n.1003-158_1003-157delinsCT
NM_001323543.2:c.448-158_448-157delinsCT	NP_001310472.1:n.448-158_448-157delinsCT
NM_001323544.2:c.1021-158_1021-157delinsCT	NP_001310473.1:n.1021-158_1021-157delinsCT