Canonical Allele Identifier: CA918442262
Gene: B4GALT1 HGNC NCBI

Linked Data

dbSNP Id: rs1587730889

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.33122372del , CM000671.2:g.33122372del GRCh38
NC_000009.11:g.33122370del , CM000671.1:g.33122370del GRCh37
NC_000009.10:g.33112370del NCBI36
NG_008919.1:g.49989del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379731.5:c.649-1764del MANE Select ENSP00000369055.4:n.649-1764del
ENST00000379731.4:c.649-1764del ENSP00000369055.4:n.649-1764del
ENST00000535206.5:c.648+12819del ENSP00000440341.1:n.648+12819del
NM_001497.3:c.649-1764del NP_001488.2:n.649-1764del
XM_005251440.3:c.649-1764del XP_005251497.1:n.649-1764del
XM_005251440.5:c.649-1764del XP_005251497.1:n.649-1764del
NM_001378495.1:c.610-1764del NP_001365424.1:n.610-1764del
NM_001378496.1:c.649-1764del NP_001365425.1:n.649-1764del
NM_001378497.1:c.648+12819del NP_001365426.1:n.648+12819del
NM_001497.4:c.649-1764del MANE Select NP_001488.2:n.649-1764del