Canonical Allele Identifier: CA2241318650
Gene: GALNS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88826356_88826358delinsCGT , CM000678.2:g.88826356_88826358delinsCGT GRCh38
NC_000016.9:g.88892764_88892766delinsCGT , CM000678.1:g.88892764_88892766delinsCGT GRCh37
NC_000016.8:g.87420265_87420267delinsCGT NCBI36
NG_008667.1:g.35609_35611delinsACG

Transcript Alleles

HGVS Amino-acid Change
ENST00000268695.10:c.1139+344_1139+346delinsACG MANE Select ENSP00000268695.5:n.1139+344_1139+346delinsACG
ENST00000268695.9:c.1139+344_1139+346delinsACG ENSP00000268695.5:n.1139+344_1139+346delinsACG
ENST00000562593.5:n.4548+344_4548+346delinsACG
ENST00000564263.1:n.415+344_415+346delinsACG
ENST00000567525.5:c.820+344_820+346delinsACG ENSP00000454484.1:n.820+344_820+346delinsACG
ENST00000568613.5:c.1258+344_1258+346delinsACG ENSP00000457921.1:n.1258+344_1258+346delinsACG
NM_000512.4:c.1139+344_1139+346delinsACG NP_000503.1:n.1139+344_1139+346delinsACG
XM_005256301.2:c.1139+344_1139+346delinsACG XP_005256358.1:n.1139+344_1139+346delinsACG
XM_005256302.1:c.1157+344_1157+346delinsACG XP_005256359.1:n.1157+344_1157+346delinsACG
XM_011522982.1:c.1157+344_1157+346delinsACG XP_011521284.1:n.1157+344_1157+346delinsACG
XM_011522984.1:c.1157+344_1157+346delinsACG XP_011521286.1:n.1157+344_1157+346delinsACG
NM_001323543.1:c.584+344_584+346delinsACG NP_001310472.1:n.584+344_584+346delinsACG
NM_001323544.1:c.1157+344_1157+346delinsACG NP_001310473.1:n.1157+344_1157+346delinsACG
XM_005256301.3:c.1139+344_1139+346delinsACG XP_005256358.1:n.1139+344_1139+346delinsACG
XM_011522982.2:c.1157+344_1157+346delinsACG XP_011521284.1:n.1157+344_1157+346delinsACG
XM_017023111.2:c.1157+344_1157+346delinsACG XP_016878600.1:n.1157+344_1157+346delinsACG
XM_017023112.2:c.1157+344_1157+346delinsACG XP_016878601.1:n.1157+344_1157+346delinsACG
XM_017023113.1:c.584+344_584+346delinsACG XP_016878602.1:n.584+344_584+346delinsACG
NM_000512.5:c.1139+344_1139+346delinsACG MANE Select NP_000503.1:n.1139+344_1139+346delinsACG
NM_001323543.2:c.584+344_584+346delinsACG NP_001310472.1:n.584+344_584+346delinsACG
NM_001323544.2:c.1157+344_1157+346delinsACG NP_001310473.1:n.1157+344_1157+346delinsACG