Canonical Allele Identifier: CA2634889288
Gene: GALNS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88827095_88827096insCA , CM000678.2:g.88827095_88827096insCA GRCh38
NC_000016.9:g.88893503_88893504insCA , CM000678.1:g.88893503_88893504insCA GRCh37
NC_000016.8:g.87421004_87421005insCA NCBI36
NG_008667.1:g.34872_34873insGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000268695.10:c.1003-257_1003-256insGT MANE Select ENSP00000268695.5:n.1003-257_1003-256insGT
ENST00000268695.9:c.1003-257_1003-256insGT ENSP00000268695.5:n.1003-257_1003-256insGT
ENST00000562593.5:n.4412-257_4412-256insGT
ENST00000564263.1:n.22_23insGT
ENST00000567525.5:c.684-257_684-256insGT ENSP00000454484.1:n.684-257_684-256insGT
ENST00000568613.5:c.1122-257_1122-256insGT ENSP00000457921.1:n.1122-257_1122-256insGT
NM_000512.4:c.1003-257_1003-256insGT NP_000503.1:n.1003-257_1003-256insGT
XM_005256301.2:c.1003-257_1003-256insGT XP_005256358.1:n.1003-257_1003-256insGT
XM_005256302.1:c.1021-257_1021-256insGT XP_005256359.1:n.1021-257_1021-256insGT
XM_011522982.1:c.1021-257_1021-256insGT XP_011521284.1:n.1021-257_1021-256insGT
XM_011522984.1:c.1021-257_1021-256insGT XP_011521286.1:n.1021-257_1021-256insGT
NM_001323543.1:c.448-257_448-256insGT NP_001310472.1:n.448-257_448-256insGT
NM_001323544.1:c.1021-257_1021-256insGT NP_001310473.1:n.1021-257_1021-256insGT
XM_005256301.3:c.1003-257_1003-256insGT XP_005256358.1:n.1003-257_1003-256insGT
XM_011522982.2:c.1021-257_1021-256insGT XP_011521284.1:n.1021-257_1021-256insGT
XM_017023111.2:c.1021-257_1021-256insGT XP_016878600.1:n.1021-257_1021-256insGT
XM_017023112.2:c.1021-257_1021-256insGT XP_016878601.1:n.1021-257_1021-256insGT
XM_017023113.1:c.448-257_448-256insGT XP_016878602.1:n.448-257_448-256insGT
NM_000512.5:c.1003-257_1003-256insGT MANE Select NP_000503.1:n.1003-257_1003-256insGT
NM_001323543.2:c.448-257_448-256insGT NP_001310472.1:n.448-257_448-256insGT
NM_001323544.2:c.1021-257_1021-256insGT NP_001310473.1:n.1021-257_1021-256insGT