Canonical Allele Identifier: CA2763339218

Gene: BBS7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121854799_121854800insCACCCAACAC , CM000666.2:g.121854799_121854800insCACCCAACAC	GRCh38
NC_000004.11:g.122775954_122775955insCACCCAACAC , CM000666.1:g.122775954_122775955insCACCCAACAC	GRCh37
NC_000004.10:g.122995404_122995405insCACCCAACAC	NCBI36
NG_009111.1:g.20688_20689insGTGTTGGGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.622_623insGTGTTGGGTG MANE Select	ENSP00000264499.4:p.Leu208CysfsTer31
ENST00000264499.8:c.622_623insGTGTTGGGTG	ENSP00000264499.4:p.Leu208CysfsTer31
ENST00000506636.1:c.622_623insGTGTTGGGTG	ENSP00000423626.1:p.Leu208CysfsTer31
NM_018190.3:c.622_623insGTGTTGGGTG	NP_060660.2:p.Leu208CysfsTer31
NM_176824.2:c.622_623insGTGTTGGGTG	NP_789794.1:p.Leu208CysfsTer31
XM_005263106.2:c.625_626insGTGTTGGGTG	XP_005263163.1:p.Leu209CysfsTer31
XM_011532079.1:c.670_671insGTGTTGGGTG	XP_011530381.1:p.Leu224CysfsTer31
XM_011532080.1:c.667_668insGTGTTGGGTG	XP_011530382.1:p.Leu223CysfsTer31
XM_011532081.1:c.670_671insGTGTTGGGTG	XP_011530383.1:p.Leu224CysfsTer31
XM_005263106.4:c.625_626insGTGTTGGGTG	XP_005263163.1:p.Leu209CysfsTer31
XM_011532079.3:c.670_671insGTGTTGGGTG	XP_011530381.1:p.Leu224CysfsTer31
XM_011532080.3:c.667_668insGTGTTGGGTG	XP_011530382.1:p.Leu223CysfsTer31
XM_011532081.3:c.670_671insGTGTTGGGTG	XP_011530383.1:p.Leu224CysfsTer31
XM_017008357.2:c.622_623insGTGTTGGGTG	XP_016863846.1:p.Leu208CysfsTer31
XM_017008358.2:c.625_626insGTGTTGGGTG	XP_016863847.1:p.Leu209CysfsTer31
NM_176824.3:c.622_623insGTGTTGGGTG MANE Select	NP_789794.1:p.Leu208CysfsTer31
NM_018190.4:c.622_623insGTGTTGGGTG	NP_060660.2:p.Leu208CysfsTer31