Canonical Allele Identifier: CA1148809940
Gene: B3GALT6 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232589_1232604delinsAGGAGCGGCGCGCCCT , CM000663.2:g.1232589_1232604delinsAGGAGCGGCGCGCCCT GRCh38
NC_000001.10:g.1167969_1167984delinsAGGAGCGGCGCGCCCT , CM000663.1:g.1167969_1167984delinsAGGAGCGGCGCGCCCT GRCh37
NC_000001.9:g.1157832_1157847delinsAGGAGCGGCGCGCCCT NCBI36
NG_030007.1:g.4464_4479delinsAGGGCGCGCCGCTCCT
NG_033265.1:g.5341_5356delinsAGGAGCGGCGCGCCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.311_326delinsAGGAGCGGCGCGCCCT MANE Select ENSP00000368496.2:p.Glu104=
ENST00000379198.3:c.311_326delinsAGGAGCGGCGCGCCCT ENSP00000368496.2:p.Glu104=
NM_080605.3:c.311_326delinsAGGAGCGGCGCGCCCT NP_542172.2:p.Glu104=
NM_080605.4:c.311_326delinsAGGAGCGGCGCGCCCT MANE Select NP_542172.2:p.Glu104=
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Search 100 bp 3'