Canonical Allele Identifier: CA3069371

Gene: BBS12

Linked Data

• ClinVar Variation Id: 347497
• ClinVar RCV Id: RCV000675164 ; RCV001073939 ; RCV001210623
• dbSNP Id: rs770218590
• ExAC: 4:123664138 CA / C
• gnomAD v2: 4-123664138-CA-C
• gnomAD v3: 4-122742983-CA-C
• gnomAD v4: 4-122742983-CA-C
• MyVariant Identifiers: chr4:g.123664139del (hg19) ; chr4:g.122742984del (hg38)
• PubMed: PMID:17160889

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122742984del , CM000666.2:g.122742984del	GRCh38
NC_000004.11:g.123664139del , CM000666.1:g.123664139del	GRCh37
NC_000004.10:g.123883589del	NCBI36
NG_021203.1:g.15283del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314218.8:c.1092del MANE Select	ENSP00000319062.3:p.Glu365ArgfsTer18
ENST00000314218.7:c.1092del	ENSP00000319062.3:p.Glu365ArgfsTer18
ENST00000542236.5:c.1092del	ENSP00000438273.1:p.Glu365ArgfsTer18
NM_001178007.1:c.1092del	NP_001171478.1:p.Glu365ArgfsTer18
NM_152618.2:c.1092del	NP_689831.2:p.Glu365ArgfsTer18
XM_011531680.1:c.1092del	XP_011529982.1:p.Glu365ArgfsTer18
XM_011531680.2:c.1092del	XP_011529982.1:p.Glu365ArgfsTer18
XM_017007831.1:c.1092del	XP_016863320.1:p.Glu365ArgfsTer18
NM_152618.3:c.1092del MANE Select	NP_689831.2:p.Glu365ArgfsTer18
NM_001178007.2:c.1092del	NP_001171478.1:p.Glu365ArgfsTer18