Canonical Allele Identifier: CA1067454830

Gene: BBS7

Linked Data

• gnomAD v3: 4-121854460-T-TAATTGTCTGAGGTAATTTAGTTGTTTGAGGTAC
• gnomAD v4: 4-121854460-T-TAATTGTCTGAGGTAATTTAGTTGTTTGAGGTAC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121854461_121854462insATTGTCTGAGGTAATTTAGTTGTTTGAGGTACA , CM000666.2:g.121854461_121854462insATTGTCTGAGGTAATTTAGTTGTTTGAGGTACA	GRCh38
NC_000004.11:g.122775616_122775617insATTGTCTGAGGTAATTTAGTTGTTTGAGGTACA , CM000666.1:g.122775616_122775617insATTGTCTGAGGTAATTTAGTTGTTTGAGGTACA	GRCh37
NC_000004.10:g.122995066_122995067insATTGTCTGAGGTAATTTAGTTGTTTGAGGTACA	NCBI36
NG_009111.1:g.21027_21028insGTACCTCAAACAACTAAATTACCTCAGACAATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.718+243_718+244insGTACCTCAAACAACTAAATTACCTCAGACAATT MANE Select	ENSP00000264499.4:n.718+243_718+244insGTACCTCAAACAACTAAATTACC...
ENST00000264499.8:c.718+243_718+244insGTACCTCAAACAACTAAATTACCTCAGACAATT	ENSP00000264499.4:n.718+243_718+244insGTACCTCAAACAACTAAATTACC...
ENST00000506636.1:c.718+243_718+244insGTACCTCAAACAACTAAATTACCTCAGACAATT	ENSP00000423626.1:n.718+243_718+244insGTACCTCAAACAACTAAATTACC...
NM_018190.3:c.718+243_718+244insGTACCTCAAACAACTAAATTACCTCAGACAATT	NP_060660.2:n.718+243_718+244insGTACCTCAAACAACTAAATTACCTCAGAC...
NM_176824.2:c.718+243_718+244insGTACCTCAAACAACTAAATTACCTCAGACAATT	NP_789794.1:n.718+243_718+244insGTACCTCAAACAACTAAATTACCTCAGAC...
XM_005263106.2:c.721+243_721+244insGTACCTCAAACAACTAAATTACCTCAGACAATT	XP_005263163.1:n.721+243_721+244insGTACCTCAAACAACTAAATTACCTCA...
XM_011532079.1:c.766+243_766+244insGTACCTCAAACAACTAAATTACCTCAGACAATT	XP_011530381.1:n.766+243_766+244insGTACCTCAAACAACTAAATTACCTCA...
XM_011532080.1:c.763+243_763+244insGTACCTCAAACAACTAAATTACCTCAGACAATT	XP_011530382.1:n.763+243_763+244insGTACCTCAAACAACTAAATTACCTCA...
XM_011532081.1:c.766+243_766+244insGTACCTCAAACAACTAAATTACCTCAGACAATT	XP_011530383.1:n.766+243_766+244insGTACCTCAAACAACTAAATTACCTCA...
XM_005263106.4:c.721+243_721+244insGTACCTCAAACAACTAAATTACCTCAGACAATT	XP_005263163.1:n.721+243_721+244insGTACCTCAAACAACTAAATTACCTCA...
XM_011532079.3:c.766+243_766+244insGTACCTCAAACAACTAAATTACCTCAGACAATT	XP_011530381.1:n.766+243_766+244insGTACCTCAAACAACTAAATTACCTCA...
XM_011532080.3:c.763+243_763+244insGTACCTCAAACAACTAAATTACCTCAGACAATT	XP_011530382.1:n.763+243_763+244insGTACCTCAAACAACTAAATTACCTCA...
XM_011532081.3:c.766+243_766+244insGTACCTCAAACAACTAAATTACCTCAGACAATT	XP_011530383.1:n.766+243_766+244insGTACCTCAAACAACTAAATTACCTCA...
XM_017008357.2:c.718+243_718+244insGTACCTCAAACAACTAAATTACCTCAGACAATT	XP_016863846.1:n.718+243_718+244insGTACCTCAAACAACTAAATTACCTCA...
XM_017008358.2:c.721+243_721+244insGTACCTCAAACAACTAAATTACCTCAGACAATT	XP_016863847.1:n.721+243_721+244insGTACCTCAAACAACTAAATTACCTCA...
NM_176824.3:c.718+243_718+244insGTACCTCAAACAACTAAATTACCTCAGACAATT MANE Select	NP_789794.1:n.718+243_718+244insGTACCTCAAACAACTAAATTACCTCAGAC...
NM_018190.4:c.718+243_718+244insGTACCTCAAACAACTAAATTACCTCAGACAATT	NP_060660.2:n.718+243_718+244insGTACCTCAAACAACTAAATTACCTCAGAC...