Canonical Allele Identifier: CA2740090555
Gene: B3GALT6 HGNC NCBI

Linked Data

ClinVar Variation Id: 2945116
ClinVar RCV Id: RCV003800770
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232419_1232420delinsTT , CM000663.2:g.1232419_1232420delinsTT GRCh38
NC_000001.10:g.1167799_1167800delinsTT , CM000663.1:g.1167799_1167800delinsTT GRCh37
NC_000001.9:g.1157662_1157663delinsTT NCBI36
NG_030007.1:g.4648_4649delinsAA
NG_033265.1:g.5171_5172delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.141_142delinsTT MANE Select ENSP00000368496.2:p.Pro48Ser
ENST00000379198.3:c.141_142delinsTT ENSP00000368496.2:p.Pro48Ser
NM_080605.3:c.141_142delinsTT NP_542172.2:p.Pro48Ser
NM_080605.4:c.141_142delinsTT MANE Select NP_542172.2:p.Pro48Ser
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