Canonical Allele Identifier: CA2763339190

Gene: BBS7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121854614G>A , CM000666.2:g.121854614G>A	GRCh38
NC_000004.11:g.122775769G>A , CM000666.1:g.122775769G>A	GRCh37
NC_000004.10:g.122995219G>A	NCBI36
NG_009111.1:g.20874C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.718+90C>T MANE Select	ENSP00000264499.4:n.718+90C>T
ENST00000264499.8:c.718+90C>T	ENSP00000264499.4:n.718+90C>T
ENST00000506636.1:c.718+90C>T	ENSP00000423626.1:n.718+90C>T
NM_018190.3:c.718+90C>T	NP_060660.2:n.718+90C>T
NM_176824.2:c.718+90C>T	NP_789794.1:n.718+90C>T
XM_005263106.2:c.721+90C>T	XP_005263163.1:n.721+90C>T
XM_011532079.1:c.766+90C>T	XP_011530381.1:n.766+90C>T
XM_011532080.1:c.763+90C>T	XP_011530382.1:n.763+90C>T
XM_011532081.1:c.766+90C>T	XP_011530383.1:n.766+90C>T
XM_005263106.4:c.721+90C>T	XP_005263163.1:n.721+90C>T
XM_011532079.3:c.766+90C>T	XP_011530381.1:n.766+90C>T
XM_011532080.3:c.763+90C>T	XP_011530382.1:n.763+90C>T
XM_011532081.3:c.766+90C>T	XP_011530383.1:n.766+90C>T
XM_017008357.2:c.718+90C>T	XP_016863846.1:n.718+90C>T
XM_017008358.2:c.721+90C>T	XP_016863847.1:n.721+90C>T
NM_176824.3:c.718+90C>T MANE Select	NP_789794.1:n.718+90C>T
NM_018190.4:c.718+90C>T	NP_060660.2:n.718+90C>T