Canonical Allele Identifier: CA2642524554
Gene: B3GALT6 HGNC NCBI

Linked Data

gnomAD v4: 1-1232535-CCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232538_1232633del , CM000663.2:g.1232538_1232633del GRCh38
NC_000001.10:g.1167918_1168013del , CM000663.1:g.1167918_1168013del GRCh37
NC_000001.9:g.1157781_1157876del NCBI36
NG_030007.1:g.4437_4532del
NG_033265.1:g.5290_5385del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.260_355del MANE Select ENSP00000368496.2:p.Pro87_Asp118del
ENST00000379198.3:c.260_355del ENSP00000368496.2:p.Pro87_Asp118del
NM_080605.3:c.260_355del NP_542172.2:p.Pro87_Asp118del
NM_080605.4:c.260_355del MANE Select NP_542172.2:p.Pro87_Asp118del
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