Canonical Allele Identifier: CA1148809540
Gene: B3GALT6 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232530_1232531delinsCG , CM000663.2:g.1232530_1232531delinsCG GRCh38
NC_000001.10:g.1167910_1167911delinsCG , CM000663.1:g.1167910_1167911delinsCG GRCh37
NC_000001.9:g.1157773_1157774delinsCG NCBI36
NG_030007.1:g.4537_4538delinsCG
NG_033265.1:g.5282_5283delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.252_253delinsCG MANE Select ENSP00000368496.2:p.Arg84=
ENST00000379198.3:c.252_253delinsCG ENSP00000368496.2:p.Arg84=
NM_080605.3:c.252_253delinsCG NP_542172.2:p.Arg84=
NM_080605.4:c.252_253delinsCG MANE Select NP_542172.2:p.Arg84=
Search 100 bp 5'
Search 100 bp 3'