Canonical Allele Identifier: CA645372761

Gene: BBS12

Linked Data

• ClinVar Variation Id: 434491
• ClinVar RCV Id: RCV000501494
• dbSNP Id: rs1553941312
• MyVariant Identifiers: chr4:g.123663834dup (hg19) ; chr4:g.122742679dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122742679dup , CM000666.2:g.122742679dup	GRCh38
NC_000004.11:g.123663834dup , CM000666.1:g.123663834dup	GRCh37
NC_000004.10:g.123883284dup	NCBI36
NG_021203.1:g.14978dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314218.8:c.787dup MANE Select	ENSP00000319062.3:p.Tyr263LeufsTer4
ENST00000314218.7:c.787dup	ENSP00000319062.3:p.Tyr263LeufsTer4
ENST00000542236.5:c.787dup	ENSP00000438273.1:p.Tyr263LeufsTer4
NM_001178007.1:c.787dup	NP_001171478.1:p.Tyr263LeufsTer4
NM_152618.2:c.787dup	NP_689831.2:p.Tyr263LeufsTer4
XM_011531680.1:c.787dup	XP_011529982.1:p.Tyr263LeufsTer4
XM_011531680.2:c.787dup	XP_011529982.1:p.Tyr263LeufsTer4
XM_017007831.1:c.787dup	XP_016863320.1:p.Tyr263LeufsTer4
NM_152618.3:c.787dup MANE Select	NP_689831.2:p.Tyr263LeufsTer4
NM_001178007.2:c.787dup	NP_001171478.1:p.Tyr263LeufsTer4