Canonical Allele Identifier: CA2671949187

Gene: BBS7

Linked Data

• gnomAD v4: 4-121854816-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121854817del , CM000666.2:g.121854817del	GRCh38
NC_000004.11:g.122775972del , CM000666.1:g.122775972del	GRCh37
NC_000004.10:g.122995422del	NCBI36
NG_009111.1:g.20671del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.605del MANE Select	ENSP00000264499.4:p.Asp202AlafsTer?
ENST00000264499.8:c.605del	ENSP00000264499.4:p.Asp202AlafsTer?
ENST00000506636.1:c.605del	ENSP00000423626.1:p.Asp202AlafsTer?
NM_018190.3:c.605del	NP_060660.2:p.Asp202AlafsTer?
NM_176824.2:c.605del	NP_789794.1:p.Asp202AlafsTer?
XM_005263106.2:c.608del	XP_005263163.1:p.Asp203AlafsTer?
XM_011532079.1:c.653del	XP_011530381.1:p.Asp218AlafsTer?
XM_011532080.1:c.650del	XP_011530382.1:p.Asp217AlafsTer?
XM_011532081.1:c.653del	XP_011530383.1:p.Asp218AlafsTer?
XM_005263106.4:c.608del	XP_005263163.1:p.Asp203AlafsTer?
XM_011532079.3:c.653del	XP_011530381.1:p.Asp218AlafsTer?
XM_011532080.3:c.650del	XP_011530382.1:p.Asp217AlafsTer?
XM_011532081.3:c.653del	XP_011530383.1:p.Asp218AlafsTer?
XM_017008357.2:c.605del	XP_016863846.1:p.Asp202AlafsTer?
XM_017008358.2:c.608del	XP_016863847.1:p.Asp203AlafsTer?
NM_176824.3:c.605del MANE Select	NP_789794.1:p.Asp202AlafsTer?
NM_018190.4:c.605del	NP_060660.2:p.Asp202AlafsTer?