Canonical Allele Identifier: CA520658935
Gene: B3GALT6 HGNC NCBI

Linked Data

dbSNP Id: rs1414500198
gnomAD v2: 1-1167870-A-AGCGCCGCAGCGTGAT
MyVariant Identifiers: chr1:g.1167870_1167871insGCGCCGCAGCGTGAT (hg19) chr1:g.1232490_1232491insGCGCCGCAGCGTGAT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232491_1232505dup , CM000663.2:g.1232491_1232505dup GRCh38
NC_000001.10:g.1167871_1167885dup , CM000663.1:g.1167871_1167885dup GRCh37
NC_000001.9:g.1157734_1157748dup NCBI36
NG_030007.1:g.4563_4577dup
NG_033265.1:g.5243_5257dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.213_227dup MANE Select ENSP00000368496.2:p.Val75_Ile76insMetArgArgSerVal
ENST00000379198.3:c.213_227dup ENSP00000368496.2:p.Val75_Ile76insMetArgArgSerVal
NM_080605.3:c.213_227dup NP_542172.2:p.Val75_Ile76insMetArgArgSerVal
NM_080605.4:c.213_227dup MANE Select NP_542172.2:p.Val75_Ile76insMetArgArgSerVal
Search 100 bp 5'
Search 100 bp 3'