Canonical Allele Identifier: CA1490015309

Gene: BBS7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121828180G= , CM000666.2:g.121828180G=	GRCh38
NC_000004.11:g.122749335G= , CM000666.1:g.122749335G=	GRCh37
NC_000004.10:g.122968785G=	NCBI36
NG_009111.1:g.47308C=
NG_052974.1:g.822C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000264499.9:c.1980C= MANE Select	ENSP00000264499.4:p.Tyr660=
ENST00000264499.8:c.1980C=	ENSP00000264499.4:p.Tyr660=
ENST00000506636.1:c.1980C=	ENSP00000423626.1:p.Tyr660=
ENST00000507814.5:c.249C=	ENSP00000423250.1:p.Tyr83=
NM_018190.3:c.1980C=	NP_060660.2:p.Tyr660=
NM_176824.2:c.1980C=	NP_789794.1:p.Tyr660=
XM_005263106.2:c.1983C=	XP_005263163.1:p.Tyr661=
XM_011532079.1:c.2028C=	XP_011530381.1:p.Tyr676=
XM_011532080.1:c.2025C=	XP_011530382.1:p.Tyr675=
XM_011532081.1:c.1863C=	XP_011530383.1:p.Tyr621=
XM_005263106.4:c.1983C=	XP_005263163.1:p.Tyr661=
XM_011532079.3:c.2028C=	XP_011530381.1:p.Tyr676=
XM_011532080.3:c.2025C=	XP_011530382.1:p.Tyr675=
XM_011532081.3:c.1863C=	XP_011530383.1:p.Tyr621=
XM_017008357.2:c.1815C=	XP_016863846.1:p.Tyr605=
XM_017008358.2:c.1818C=	XP_016863847.1:p.Tyr606=
NM_176824.3:c.1980C= MANE Select	NP_789794.1:p.Tyr660=
NM_018190.4:c.1980C=	NP_060660.2:p.Tyr660=