Canonical Allele Identifier: CA1148809196
Gene: B3GALT6 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232471_1232528delinsAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGC , CM000663.2:g.1232471_1232528delinsAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGC GRCh38
NC_000001.10:g.1167851_1167908delinsAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGC , CM000663.1:g.1167851_1167908delinsAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGC GRCh37
NC_000001.9:g.1157714_1157771delinsAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGC NCBI36
NG_030007.1:g.4540_4597delinsGCCGCGCAAGCCACGTGCTGCGGATCACGCTGCGGCGCTCGGCGGCGCGGGGCGCGCT
NG_033265.1:g.5223_5280delinsAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.193_250delinsAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGC MANE Select ENSP00000368496.2:p.Ser65=
ENST00000379198.3:c.193_250delinsAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGC ENSP00000368496.2:p.Ser65=
NM_080605.3:c.193_250delinsAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGC NP_542172.2:p.Ser65=
NM_080605.4:c.193_250delinsAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGC MANE Select NP_542172.2:p.Ser65=
Search 100 bp 5'
Search 100 bp 3'