Canonical Allele Identifier: CA16040930
Gene: BBS12 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371339
ClinVar RCV Id: RCV000412053
dbSNP Id: rs1057517193

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.122742974del , CM000666.2:g.122742974del GRCh38
NC_000004.11:g.123664129del , CM000666.1:g.123664129del GRCh37
NC_000004.10:g.123883579del NCBI36
NG_021203.1:g.15273del

Transcript Alleles

HGVS Amino-acid change
NM_001178007.1:c.1082del VV NP_001171478.1:p.Gly361ValfsTer22
NM_152618.2:c.1082del VV NP_689831.2:p.Gly361ValfsTer22
XM_011531680.1:c.1082del XP_011529982.1:p.Gly361ValfsTer22
XM_011531680.2:c.1082del XP_011529982.1:p.Gly361ValfsTer22
XM_017007831.1:c.1082del XP_016863320.1:p.Gly361ValfsTer22
NM_152618.3:c.1082del VV MANE Preferred NP_689831.2:p.Gly361ValfsTer22
ENST00000314218.7:c.1082del ENSP00000319062.3:p.Gly361ValfsTer22
ENST00000542236.5:c.1082del ENSP00000438273.1:p.Gly361ValfsTer22