Canonical Allele Identifier: CA1490015305

Gene: BBS7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121828171_121828174delinsTTGC , CM000666.2:g.121828171_121828174delinsTTGC	GRCh38
NC_000004.11:g.122749326_122749329delinsTTGC , CM000666.1:g.122749326_122749329delinsTTGC	GRCh37
NC_000004.10:g.122968776_122968779delinsTTGC	NCBI36
NG_009111.1:g.47314_47317delinsGCAA
NG_052974.1:g.828_831delinsGCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.1986_1989delinsGCAA MANE Select	ENSP00000264499.4:p.Lys662=
ENST00000264499.8:c.1986_1989delinsGCAA	ENSP00000264499.4:p.Lys662=
ENST00000506636.1:c.1986_1989delinsGCAA	ENSP00000423626.1:p.Lys662=
ENST00000507814.5:c.255_258delinsGCAA	ENSP00000423250.1:p.Lys85=
NM_018190.3:c.1986_1989delinsGCAA	NP_060660.2:p.Lys662=
NM_176824.2:c.1986_1989delinsGCAA	NP_789794.1:p.Lys662=
XM_005263106.2:c.1989_1992delinsGCAA	XP_005263163.1:p.Lys663=
XM_011532079.1:c.2034_2037delinsGCAA	XP_011530381.1:p.Lys678=
XM_011532080.1:c.2031_2034delinsGCAA	XP_011530382.1:p.Lys677=
XM_011532081.1:c.1869_1872delinsGCAA	XP_011530383.1:p.Lys623=
XM_005263106.4:c.1989_1992delinsGCAA	XP_005263163.1:p.Lys663=
XM_011532079.3:c.2034_2037delinsGCAA	XP_011530381.1:p.Lys678=
XM_011532080.3:c.2031_2034delinsGCAA	XP_011530382.1:p.Lys677=
XM_011532081.3:c.1869_1872delinsGCAA	XP_011530383.1:p.Lys623=
XM_017008357.2:c.1821_1824delinsGCAA	XP_016863846.1:p.Lys607=
XM_017008358.2:c.1824_1827delinsGCAA	XP_016863847.1:p.Lys608=
NM_176824.3:c.1986_1989delinsGCAA MANE Select	NP_789794.1:p.Lys662=
NM_018190.4:c.1986_1989delinsGCAA	NP_060660.2:p.Lys662=