Canonical Allele Identifier: CA2241324708
Gene: GALNS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88835531_88835534delinsTGAA , CM000678.2:g.88835531_88835534delinsTGAA GRCh38
NC_000016.9:g.88901939_88901942delinsTGAA , CM000678.1:g.88901939_88901942delinsTGAA GRCh37
NC_000016.8:g.87429440_87429443delinsTGAA NCBI36
NG_008667.1:g.26433_26436delinsTTCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000268695.10:c.759-182_759-179delinsTTCA MANE Select ENSP00000268695.5:n.759-182_759-179delinsTTCA
ENST00000268695.9:c.759-182_759-179delinsTTCA ENSP00000268695.5:n.759-182_759-179delinsTTCA
ENST00000562593.5:n.4168-182_4168-179delinsTTCA
ENST00000562931.5:n.347-182_347-179delinsTTCA
ENST00000567525.5:c.440-182_440-179delinsTTCA ENSP00000454484.1:n.440-182_440-179delinsTTCA
ENST00000568613.5:c.878-182_878-179delinsTTCA ENSP00000457921.1:n.878-182_878-179delinsTTCA
NM_000512.4:c.759-182_759-179delinsTTCA NP_000503.1:n.759-182_759-179delinsTTCA
XM_005256301.2:c.759-182_759-179delinsTTCA XP_005256358.1:n.759-182_759-179delinsTTCA
XM_005256302.1:c.777-182_777-179delinsTTCA XP_005256359.1:n.777-182_777-179delinsTTCA
XM_011522982.1:c.777-182_777-179delinsTTCA XP_011521284.1:n.777-182_777-179delinsTTCA
XM_011522984.1:c.777-182_777-179delinsTTCA XP_011521286.1:n.777-182_777-179delinsTTCA
NM_001323543.1:c.204-182_204-179delinsTTCA NP_001310472.1:n.204-182_204-179delinsTTCA
NM_001323544.1:c.777-182_777-179delinsTTCA NP_001310473.1:n.777-182_777-179delinsTTCA
XM_005256301.3:c.759-182_759-179delinsTTCA XP_005256358.1:n.759-182_759-179delinsTTCA
XM_011522982.2:c.777-182_777-179delinsTTCA XP_011521284.1:n.777-182_777-179delinsTTCA
XM_017023111.2:c.777-182_777-179delinsTTCA XP_016878600.1:n.777-182_777-179delinsTTCA
XM_017023112.2:c.777-182_777-179delinsTTCA XP_016878601.1:n.777-182_777-179delinsTTCA
XM_017023113.1:c.204-182_204-179delinsTTCA XP_016878602.1:n.204-182_204-179delinsTTCA
NM_000512.5:c.759-182_759-179delinsTTCA MANE Select NP_000503.1:n.759-182_759-179delinsTTCA
NM_001323543.2:c.204-182_204-179delinsTTCA NP_001310472.1:n.204-182_204-179delinsTTCA
NM_001323544.2:c.777-182_777-179delinsTTCA NP_001310473.1:n.777-182_777-179delinsTTCA