Canonical Allele Identifier: CA1148809644
Gene: B3GALT6 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232538_1232539delinsCG , CM000663.2:g.1232538_1232539delinsCG GRCh38
NC_000001.10:g.1167918_1167919delinsCG , CM000663.1:g.1167918_1167919delinsCG GRCh37
NC_000001.9:g.1157781_1157782delinsCG NCBI36
NG_030007.1:g.4529_4530delinsCG
NG_033265.1:g.5290_5291delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.260_261delinsCG MANE Select ENSP00000368496.2:p.Pro87=
ENST00000379198.3:c.260_261delinsCG ENSP00000368496.2:p.Pro87=
NM_080605.3:c.260_261delinsCG NP_542172.2:p.Pro87=
NM_080605.4:c.260_261delinsCG MANE Select NP_542172.2:p.Pro87=
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