Canonical Allele Identifier: CA3064114

Gene: BBS7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121828386C>T , CM000666.2:g.121828386C>T	GRCh38
NC_000004.11:g.122749541C>T , CM000666.1:g.122749541C>T	GRCh37
NC_000004.10:g.122968991C>T	NCBI36
NG_009111.1:g.47102G>A
NG_052974.1:g.616G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_176824.3:c.1890+16G>A MANE Select	NP_789794.1:n.1890+16G>A
ENST00000264499.9:c.1890+16G>A MANE Select	ENSP00000264499.4:n.1890+16G>A
NM_018190.3:c.1890+16G>A	NP_060660.2:n.1890+16G>A
NM_018190.4:c.1890+16G>A	NP_060660.2:n.1890+16G>A
NM_176824.2:c.1890+16G>A	NP_789794.1:n.1890+16G>A
ENST00000264499.8:c.1890+16G>A	ENSP00000264499.4:n.1890+16G>A
ENST00000506636.1:c.1890+16G>A	ENSP00000423626.1:n.1890+16G>A
ENST00000507814.5:c.159+16G>A	ENSP00000423250.1:n.159+16G>A
XM_005263106.2:c.1893+16G>A	XP_005263163.1:n.1893+16G>A
XM_005263106.4:c.1893+16G>A	XP_005263163.1:n.1893+16G>A
XM_011532079.1:c.1938+16G>A	XP_011530381.1:n.1938+16G>A
XM_011532079.3:c.1938+16G>A	XP_011530381.1:n.1938+16G>A
XM_011532080.1:c.1935+16G>A	XP_011530382.1:n.1935+16G>A
XM_011532080.3:c.1935+16G>A	XP_011530382.1:n.1935+16G>A
XM_011532081.1:c.1773+16G>A	XP_011530383.1:n.1773+16G>A
XM_011532081.3:c.1773+16G>A	XP_011530383.1:n.1773+16G>A
XM_017008357.2:c.1725+16G>A	XP_016863846.1:n.1725+16G>A
XM_017008358.2:c.1728+16G>A	XP_016863847.1:n.1728+16G>A