Canonical Allele Identifier: CA1305655752
Gene: B3GALT1 HGNC NCBI

Linked Data

dbSNP Id: rs1687015133

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.167709273_167709274del , CM000664.2:g.167709273_167709274del GRCh38
NC_000002.11:g.168565783_168565784del , CM000664.1:g.168565783_168565784del GRCh37
NC_000002.10:g.168274029_168274030del NCBI36
NG_050644.1:g.421213_421214del

Transcript Alleles

HGVS Amino-acid Change
ENST00000392690.4:c.-352+62307_-352+62308del MANE Select ENSP00000376456.2:n.-352+62307_-352+62308del
XM_005246931.2:c.-352+62307_-352+62308del XP_005246988.1:n.-352+62307_-352+62308del
XM_011512084.1:c.-352+62307_-352+62308del XP_011510386.1:n.-352+62307_-352+62308del
XM_011512085.1:c.-368+62307_-368+62308del XP_011510387.1:n.-368+62307_-368+62308del
XM_005246931.3:c.-352+62307_-352+62308del XP_005246988.1:n.-352+62307_-352+62308del
XM_011512085.2:c.-368+62307_-368+62308del XP_011510387.1:n.-368+62307_-368+62308del
NM_020981.4:c.-352+62307_-352+62308del MANE Select NP_066191.1:n.-352+62307_-352+62308del