Canonical Allele Identifier: CA2573138027

Gene: BBS12

Linked Data

• ClinVar Variation Id: 1400771
• ClinVar RCV Id: RCV001911479
• dbSNP Id: rs2150736842

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122742974_122742975insGGGT , CM000666.2:g.122742974_122742975insGGGT	GRCh38
NC_000004.11:g.123664129_123664130insGGGT , CM000666.1:g.123664129_123664130insGGGT	GRCh37
NC_000004.10:g.123883579_123883580insGGGT	NCBI36
NG_021203.1:g.15273_15274insGGGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000314218.8:c.1082_1083insGGGT MANE Select	ENSP00000319062.3:p.Asp362GlyfsTer2
ENST00000314218.7:c.1082_1083insGGGT	ENSP00000319062.3:p.Asp362GlyfsTer2
ENST00000542236.5:c.1082_1083insGGGT	ENSP00000438273.1:p.Asp362GlyfsTer2
NM_001178007.1:c.1082_1083insGGGT	NP_001171478.1:p.Asp362GlyfsTer2
NM_152618.2:c.1082_1083insGGGT	NP_689831.2:p.Asp362GlyfsTer2
XM_011531680.1:c.1082_1083insGGGT	XP_011529982.1:p.Asp362GlyfsTer2
XM_011531680.2:c.1082_1083insGGGT	XP_011529982.1:p.Asp362GlyfsTer2
XM_017007831.1:c.1082_1083insGGGT	XP_016863320.1:p.Asp362GlyfsTer2
NM_152618.3:c.1082_1083insGGGT MANE Select	NP_689831.2:p.Asp362GlyfsTer2
NM_001178007.2:c.1082_1083insGGGT	NP_001171478.1:p.Asp362GlyfsTer2