Canonical Allele Identifier: CA358053593

Gene: BBS7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121825934T>C , CM000666.2:g.121825934T>C	GRCh38
NC_000004.11:g.122747089T>C , CM000666.1:g.122747089T>C	GRCh37
NC_000004.10:g.122966539T>C	NCBI36
NG_009111.1:g.49554A>G
NG_052974.1:g.3068A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.2074A>G MANE Select	ENSP00000264499.4:p.Lys692Glu
ENST00000264499.8:c.2074A>G	ENSP00000264499.4:p.Lys692Glu
ENST00000507814.5:c.343A>G	ENSP00000423250.1:p.Lys115Glu
NM_176824.2:c.2074A>G	NP_789794.1:p.Lys692Glu
XM_005263106.2:c.2077A>G	XP_005263163.1:p.Lys693Glu
XM_011532079.1:c.2122A>G	XP_011530381.1:p.Lys708Glu
XM_011532080.1:c.2119A>G	XP_011530382.1:p.Lys707Glu
XM_011532081.1:c.1957A>G	XP_011530383.1:p.Lys653Glu
XM_005263106.4:c.2077A>G	XP_005263163.1:p.Lys693Glu
XM_011532079.3:c.2122A>G	XP_011530381.1:p.Lys708Glu
XM_011532080.3:c.2119A>G	XP_011530382.1:p.Lys707Glu
XM_011532081.3:c.1957A>G	XP_011530383.1:p.Lys653Glu
XM_017008357.2:c.1909A>G	XP_016863846.1:p.Lys637Glu
XM_017008358.2:c.*2207A>G	XP_016863847.1:n.*2207A>G
NM_176824.3:c.2074A>G MANE Select	NP_789794.1:p.Lys692Glu