Canonical Allele Identifier: CA913204375
Gene: B3GALT6 HGNC NCBI

Linked Data

dbSNP Id: rs1557525981
gnomAD v2: 1-1167851-AGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGC-A
gnomAD v3: 1-1232471-AGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGC-A
gnomAD v4: 1-1232471-AGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232475_1232531del , CM000663.2:g.1232475_1232531del GRCh38
NC_000001.10:g.1167855_1167911del , CM000663.1:g.1167855_1167911del GRCh37
NC_000001.9:g.1157718_1157774del NCBI36
NG_030007.1:g.4540_4596del
NG_033265.1:g.5227_5283del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.197_253del MANE Select ENSP00000368496.2:p.Ala66_Arg84del
ENST00000379198.3:c.197_253del ENSP00000368496.2:p.Ala66_Arg84del
NM_080605.3:c.197_253del NP_542172.2:p.Ala66_Arg84del
NM_080605.4:c.197_253del MANE Select NP_542172.2:p.Ala66_Arg84del
Search 100 bp 5'
Search 100 bp 3'