Canonical Allele Identifier: CA2642524625
Gene: B3GALT6 HGNC NCBI

Linked Data

gnomAD v4: 1-1232565-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232568del , CM000663.2:g.1232568del GRCh38
NC_000001.10:g.1167948del , CM000663.1:g.1167948del GRCh37
NC_000001.9:g.1157811del NCBI36
NG_030007.1:g.4502del
NG_033265.1:g.5320del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.290del MANE Select ENSP00000368496.2:p.Gly97AlafsTer?
ENST00000379198.3:c.290del ENSP00000368496.2:p.Gly97AlafsTer?
NM_080605.3:c.290del NP_542172.2:p.Gly97AlafsTer?
NM_080605.4:c.290del MANE Select NP_542172.2:p.Gly97AlafsTer?
Search 100 bp 5'
Search 100 bp 3'