Canonical Allele Identifier: CA2614496206
Gene: BBS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66510626G>A , CM000673.2:g.66510626G>A GRCh38
NC_000011.9:g.66278097G>A , CM000673.1:g.66278097G>A GRCh37
NC_000011.8:g.66034673G>A NCBI36
NG_009093.1:g.4979G>A
NG_032068.1:g.35218G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318312.11:c.-34G>A ENSP00000317469.7:n.-34G>A
ENST00000419755.3:c.159-387G>A ENSP00000398526.3:n.159-387G>A
ENST00000526760.5:c.-34G>A ENSP00000432140.1:n.-34G>A
ENST00000527251.5:c.-430G>A ENSP00000434360.1:n.-430G>A
ENST00000533644.5:c.-34G>A ENSP00000436073.1:n.-34G>A