Canonical Allele Identifier: CA1490417887

Gene: BBS12

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122743031_122743033delinsCAG , CM000666.2:g.122743031_122743033delinsCAG	GRCh38
NC_000004.11:g.123664186_123664188delinsCAG , CM000666.1:g.123664186_123664188delinsCAG	GRCh37
NC_000004.10:g.123883636_123883638delinsCAG	NCBI36
NG_021203.1:g.15330_15332delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314218.8:c.1139_1141delinsCAG MANE Select	ENSP00000319062.3:p.Thr380=
ENST00000314218.7:c.1139_1141delinsCAG	ENSP00000319062.3:p.Thr380=
ENST00000542236.5:c.1139_1141delinsCAG	ENSP00000438273.1:p.Thr380=
NM_001178007.1:c.1139_1141delinsCAG	NP_001171478.1:p.Thr380=
NM_152618.2:c.1139_1141delinsCAG	NP_689831.2:p.Thr380=
XM_011531680.1:c.1139_1141delinsCAG	XP_011529982.1:p.Thr380=
XM_011531680.2:c.1139_1141delinsCAG	XP_011529982.1:p.Thr380=
XM_017007831.1:c.1139_1141delinsCAG	XP_016863320.1:p.Thr380=
NM_152618.3:c.1139_1141delinsCAG MANE Select	NP_689831.2:p.Thr380=
NM_001178007.2:c.1139_1141delinsCAG	NP_001171478.1:p.Thr380=