Canonical Allele Identifier: CA1490015311

Gene: BBS7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121828182A= , CM000666.2:g.121828182A=	GRCh38
NC_000004.11:g.122749337A= , CM000666.1:g.122749337A=	GRCh37
NC_000004.10:g.122968787A=	NCBI36
NG_009111.1:g.47306T=
NG_052974.1:g.820T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000264499.9:c.1978T= MANE Select	ENSP00000264499.4:p.Tyr660=
ENST00000264499.8:c.1978T=	ENSP00000264499.4:p.Tyr660=
ENST00000506636.1:c.1978T=	ENSP00000423626.1:p.Tyr660=
ENST00000507814.5:c.247T=	ENSP00000423250.1:p.Tyr83=
NM_018190.3:c.1978T=	NP_060660.2:p.Tyr660=
NM_176824.2:c.1978T=	NP_789794.1:p.Tyr660=
XM_005263106.2:c.1981T=	XP_005263163.1:p.Tyr661=
XM_011532079.1:c.2026T=	XP_011530381.1:p.Tyr676=
XM_011532080.1:c.2023T=	XP_011530382.1:p.Tyr675=
XM_011532081.1:c.1861T=	XP_011530383.1:p.Tyr621=
XM_005263106.4:c.1981T=	XP_005263163.1:p.Tyr661=
XM_011532079.3:c.2026T=	XP_011530381.1:p.Tyr676=
XM_011532080.3:c.2023T=	XP_011530382.1:p.Tyr675=
XM_011532081.3:c.1861T=	XP_011530383.1:p.Tyr621=
XM_017008357.2:c.1813T=	XP_016863846.1:p.Tyr605=
XM_017008358.2:c.1816T=	XP_016863847.1:p.Tyr606=
NM_176824.3:c.1978T= MANE Select	NP_789794.1:p.Tyr660=
NM_018190.4:c.1978T=	NP_060660.2:p.Tyr660=