Canonical Allele Identifier: CA1490026005

Gene: BBS7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121854802_121854803delinsAG , CM000666.2:g.121854802_121854803delinsAG	GRCh38
NC_000004.11:g.122775957_122775958delinsAG , CM000666.1:g.122775957_122775958delinsAG	GRCh37
NC_000004.10:g.122995407_122995408delinsAG	NCBI36
NG_009111.1:g.20685_20686delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.619_620delinsCT MANE Select	ENSP00000264499.4:p.Leu207=
ENST00000264499.8:c.619_620delinsCT	ENSP00000264499.4:p.Leu207=
ENST00000506636.1:c.619_620delinsCT	ENSP00000423626.1:p.Leu207=
NM_018190.3:c.619_620delinsCT	NP_060660.2:p.Leu207=
NM_176824.2:c.619_620delinsCT	NP_789794.1:p.Leu207=
XM_005263106.2:c.622_623delinsCT	XP_005263163.1:p.Leu208=
XM_011532079.1:c.667_668delinsCT	XP_011530381.1:p.Leu223=
XM_011532080.1:c.664_665delinsCT	XP_011530382.1:p.Leu222=
XM_011532081.1:c.667_668delinsCT	XP_011530383.1:p.Leu223=
XM_005263106.4:c.622_623delinsCT	XP_005263163.1:p.Leu208=
XM_011532079.3:c.667_668delinsCT	XP_011530381.1:p.Leu223=
XM_011532080.3:c.664_665delinsCT	XP_011530382.1:p.Leu222=
XM_011532081.3:c.667_668delinsCT	XP_011530383.1:p.Leu223=
XM_017008357.2:c.619_620delinsCT	XP_016863846.1:p.Leu207=
XM_017008358.2:c.622_623delinsCT	XP_016863847.1:p.Leu208=
NM_176824.3:c.619_620delinsCT MANE Select	NP_789794.1:p.Leu207=
NM_018190.4:c.619_620delinsCT	NP_060660.2:p.Leu207=