Canonical Allele Identifier: CA1139658635

Gene: BBS12

Linked Data

• ClinVar Variation Id: 965208
• ClinVar RCV Id: RCV001239599

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122742870_122742871delinsAA , CM000666.2:g.122742870_122742871delinsAA	GRCh38
NC_000004.11:g.123664025_123664026delinsAA , CM000666.1:g.123664025_123664026delinsAA	GRCh37
NC_000004.10:g.123883475_123883476delinsAA	NCBI36
NG_021203.1:g.15169_15170delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314218.8:c.978_979delinsAA MANE Select	ENSP00000319062.3:p.Ser327Thr
ENST00000314218.7:c.978_979delinsAA	ENSP00000319062.3:p.Ser327Thr
ENST00000542236.5:c.978_979delinsAA	ENSP00000438273.1:p.Ser327Thr
NM_001178007.1:c.978_979delinsAA	NP_001171478.1:p.Ser327Thr
NM_152618.2:c.978_979delinsAA	NP_689831.2:p.Ser327Thr
XM_011531680.1:c.978_979delinsAA	XP_011529982.1:p.Ser327Thr
XM_011531680.2:c.978_979delinsAA	XP_011529982.1:p.Ser327Thr
XM_017007831.1:c.978_979delinsAA	XP_016863320.1:p.Ser327Thr
NM_152618.3:c.978_979delinsAA MANE Select	NP_689831.2:p.Ser327Thr
NM_001178007.2:c.978_979delinsAA	NP_001171478.1:p.Ser327Thr