Canonical Allele Identifier: CA2697546895

Gene: BBS12

Linked Data

• ClinVar Variation Id: 2705486
• ClinVar RCV Id: RCV003524108

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122742961_122742989del , CM000666.2:g.122742961_122742989del	GRCh38
NC_000004.11:g.123664116_123664144del , CM000666.1:g.123664116_123664144del	GRCh37
NC_000004.10:g.123883566_123883594del	NCBI36
NG_021203.1:g.15260_15288del

Transcript Alleles

HGVS	Amino-acid change
ENST00000314218.8:c.1069_1097del MANE Select	ENSP00000319062.3:p.Val357LeufsTer7
ENST00000314218.7:c.1069_1097del	ENSP00000319062.3:p.Val357LeufsTer7
ENST00000542236.5:c.1069_1097del	ENSP00000438273.1:p.Val357LeufsTer7
NM_001178007.1:c.1069_1097del	NP_001171478.1:p.Val357LeufsTer7
NM_152618.2:c.1069_1097del	NP_689831.2:p.Val357LeufsTer7
XM_011531680.1:c.1069_1097del	XP_011529982.1:p.Val357LeufsTer7
XM_011531680.2:c.1069_1097del	XP_011529982.1:p.Val357LeufsTer7
XM_017007831.1:c.1069_1097del	XP_016863320.1:p.Val357LeufsTer7
NM_152618.3:c.1069_1097del MANE Select	NP_689831.2:p.Val357LeufsTer7
NM_001178007.2:c.1069_1097del	NP_001171478.1:p.Val357LeufsTer7