Canonical Allele Identifier: CA241247

Gene: BBS7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121825945T>C , CM000666.2:g.121825945T>C	GRCh38
NC_000004.11:g.122747100T>C , CM000666.1:g.122747100T>C	GRCh37
NC_000004.10:g.122966550T>C	NCBI36
NG_009111.1:g.49543A>G
NG_052974.1:g.3057A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.2063A>G MANE Select	ENSP00000264499.4:p.Asn688Ser
ENST00000264499.8:c.2063A>G	ENSP00000264499.4:p.Asn688Ser
ENST00000507814.5:c.332A>G	ENSP00000423250.1:p.Asn111Ser
NM_176824.2:c.2063A>G	NP_789794.1:p.Asn688Ser
XM_005263106.2:c.2066A>G	XP_005263163.1:p.Asn689Ser
XM_011532079.1:c.2111A>G	XP_011530381.1:p.Asn704Ser
XM_011532080.1:c.2108A>G	XP_011530382.1:p.Asn703Ser
XM_011532081.1:c.1946A>G	XP_011530383.1:p.Asn649Ser
XM_005263106.4:c.2066A>G	XP_005263163.1:p.Asn689Ser
XM_011532079.3:c.2111A>G	XP_011530381.1:p.Asn704Ser
XM_011532080.3:c.2108A>G	XP_011530382.1:p.Asn703Ser
XM_011532081.3:c.1946A>G	XP_011530383.1:p.Asn649Ser
XM_017008357.2:c.1898A>G	XP_016863846.1:p.Asn633Ser
XM_017008358.2:c.*2196A>G	XP_016863847.1:n.*2196A>G
NM_176824.3:c.2063A>G MANE Select	NP_789794.1:p.Asn688Ser