Canonical Allele Identifier: CA192430402
Gene: B4GALT1 HGNC NCBI

Linked Data

dbSNP Id: rs796512155

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.33122628_33122629delinsCA , CM000671.2:g.33122628_33122629delinsCA GRCh38
NC_000009.11:g.33122626_33122627delinsCA , CM000671.1:g.33122626_33122627delinsCA GRCh37
NC_000009.10:g.33112626_33112627delinsCA NCBI36
NG_008919.1:g.49730_49731delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000379731.5:c.649-2023_649-2022delinsTG MANE Select ENSP00000369055.4:n.649-2023_649-2022delinsTG
ENST00000379731.4:c.649-2023_649-2022delinsTG ENSP00000369055.4:n.649-2023_649-2022delinsTG
ENST00000535206.5:c.648+12560_648+12561delinsTG ENSP00000440341.1:n.648+12560_648+12561delinsTG
NM_001497.3:c.649-2023_649-2022delinsTG NP_001488.2:n.649-2023_649-2022delinsTG
XM_005251440.3:c.649-2023_649-2022delinsTG XP_005251497.1:n.649-2023_649-2022delinsTG
XM_005251440.5:c.649-2023_649-2022delinsTG XP_005251497.1:n.649-2023_649-2022delinsTG
NM_001378495.1:c.610-2023_610-2022delinsTG NP_001365424.1:n.610-2023_610-2022delinsTG
NM_001378496.1:c.649-2023_649-2022delinsTG NP_001365425.1:n.649-2023_649-2022delinsTG
NM_001378497.1:c.648+12560_648+12561delinsTG NP_001365426.1:n.648+12560_648+12561delinsTG
NM_001497.4:c.649-2023_649-2022delinsTG MANE Select NP_001488.2:n.649-2023_649-2022delinsTG