Canonical Allele Identifier: CA1139658636

Gene: BBS12

Linked Data

• ClinVar Variation Id: 978517
• ClinVar RCV Id: RCV001257210 ; RCV003473839
• dbSNP Id: rs1800908907

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122742975delinsGGGTG , CM000666.2:g.122742975delinsGGGTG	GRCh38
NC_000004.11:g.123664130delinsGGGTG , CM000666.1:g.123664130delinsGGGTG	GRCh37
NC_000004.10:g.123883580delinsGGGTG	NCBI36
NG_021203.1:g.15274delinsGGGTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000314218.8:c.1083delinsGGGTG MANE Select	ENSP00000319062.3:p.Asp362GlyfsTer13
ENST00000314218.7:c.1083delinsGGGTG	ENSP00000319062.3:p.Asp362GlyfsTer13
ENST00000542236.5:c.1083delinsGGGTG	ENSP00000438273.1:p.Asp362GlyfsTer13
NM_001178007.1:c.1083delinsGGGTG	NP_001171478.1:p.Asp362GlyfsTer13
NM_152618.2:c.1083delinsGGGTG	NP_689831.2:p.Asp362GlyfsTer13
XM_011531680.1:c.1083delinsGGGTG	XP_011529982.1:p.Asp362GlyfsTer13
XM_011531680.2:c.1083delinsGGGTG	XP_011529982.1:p.Asp362GlyfsTer13
XM_017007831.1:c.1083delinsGGGTG	XP_016863320.1:p.Asp362GlyfsTer13
NM_152618.3:c.1083delinsGGGTG MANE Select	NP_689831.2:p.Asp362GlyfsTer13
NM_001178007.2:c.1083delinsGGGTG	NP_001171478.1:p.Asp362GlyfsTer13