Canonical Allele Identifier: CA2499217072

Gene: BBS12

Linked Data

• ClinVar Variation Id: 1073661
• ClinVar RCV Id: RCV001386729
• dbSNP Id: rs2150736854

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122742980_122742981del , CM000666.2:g.122742980_122742981del	GRCh38
NC_000004.11:g.123664135_123664136del , CM000666.1:g.123664135_123664136del	GRCh37
NC_000004.10:g.123883585_123883586del	NCBI36
NG_021203.1:g.15279_15280del

Transcript Alleles

HGVS	Amino-acid change
ENST00000314218.8:c.1088_1089del MANE Select	ENSP00000319062.3:p.Leu363HisfsTer10
ENST00000314218.7:c.1088_1089del	ENSP00000319062.3:p.Leu363HisfsTer10
ENST00000542236.5:c.1088_1089del	ENSP00000438273.1:p.Leu363HisfsTer10
NM_001178007.1:c.1088_1089del	NP_001171478.1:p.Leu363HisfsTer10
NM_152618.2:c.1088_1089del	NP_689831.2:p.Leu363HisfsTer10
XM_011531680.1:c.1088_1089del	XP_011529982.1:p.Leu363HisfsTer10
XM_011531680.2:c.1088_1089del	XP_011529982.1:p.Leu363HisfsTer10
XM_017007831.1:c.1088_1089del	XP_016863320.1:p.Leu363HisfsTer10
NM_152618.3:c.1088_1089del MANE Select	NP_689831.2:p.Leu363HisfsTer10
NM_001178007.2:c.1088_1089del	NP_001171478.1:p.Leu363HisfsTer10