Canonical Allele Identifier: CA358057215

Gene: BBS7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121833266G>C , CM000666.2:g.121833266G>C	GRCh38
NC_000004.11:g.122754421G>C , CM000666.1:g.122754421G>C	GRCh37
NC_000004.10:g.122973871G>C	NCBI36
NG_009111.1:g.42222C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.1641C>G MANE Select	ENSP00000264499.4:p.Asn547Lys
ENST00000264499.8:c.1641C>G	ENSP00000264499.4:p.Asn547Lys
ENST00000506636.1:c.1641C>G	ENSP00000423626.1:p.Asn547Lys
NM_018190.3:c.1641C>G	NP_060660.2:p.Asn547Lys
NM_176824.2:c.1641C>G	NP_789794.1:p.Asn547Lys
XM_005263106.2:c.1644C>G	XP_005263163.1:p.Asn548Lys
XM_011532079.1:c.1689C>G	XP_011530381.1:p.Asn563Lys
XM_011532080.1:c.1686C>G	XP_011530382.1:p.Asn562Lys
XM_011532081.1:c.1559+1878C>G	XP_011530383.1:n.1559+1878C>G
XM_005263106.4:c.1644C>G	XP_005263163.1:p.Asn548Lys
XM_011532079.3:c.1689C>G	XP_011530381.1:p.Asn563Lys
XM_011532080.3:c.1686C>G	XP_011530382.1:p.Asn562Lys
XM_011532081.3:c.1559+1878C>G	XP_011530383.1:n.1559+1878C>G
XM_017008357.2:c.1511+1878C>G	XP_016863846.1:n.1511+1878C>G
XM_017008358.2:c.1514+1878C>G	XP_016863847.1:n.1514+1878C>G
NM_176824.3:c.1641C>G MANE Select	NP_789794.1:p.Asn547Lys
NM_018190.4:c.1641C>G	NP_060660.2:p.Asn547Lys