Canonical Allele Identifier: CA1844935952
Gene: B4GALT1 HGNC NCBI

Linked Data

dbSNP Id: rs1840034733

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.33122461_33122463del , CM000671.2:g.33122461_33122463del GRCh38
NC_000009.11:g.33122459_33122461del , CM000671.1:g.33122459_33122461del GRCh37
NC_000009.10:g.33112459_33112461del NCBI36
NG_008919.1:g.49897_49899del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379731.5:c.649-1856_649-1854del MANE Select ENSP00000369055.4:n.649-1856_649-1854del
ENST00000379731.4:c.649-1856_649-1854del ENSP00000369055.4:n.649-1856_649-1854del
ENST00000535206.5:c.648+12727_648+12729del ENSP00000440341.1:n.648+12727_648+12729del
NM_001497.3:c.649-1856_649-1854del NP_001488.2:n.649-1856_649-1854del
XM_005251440.3:c.649-1856_649-1854del XP_005251497.1:n.649-1856_649-1854del
XM_005251440.5:c.649-1856_649-1854del XP_005251497.1:n.649-1856_649-1854del
NM_001378495.1:c.610-1856_610-1854del NP_001365424.1:n.610-1856_610-1854del
NM_001378496.1:c.649-1856_649-1854del NP_001365425.1:n.649-1856_649-1854del
NM_001378497.1:c.648+12727_648+12729del NP_001365426.1:n.648+12727_648+12729del
NM_001497.4:c.649-1856_649-1854del MANE Select NP_001488.2:n.649-1856_649-1854del