Canonical Allele Identifier: CA104763803

Gene: BBS7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121847730dup , CM000666.2:g.121847730dup	GRCh38
NC_000004.11:g.122768885dup , CM000666.1:g.122768885dup	GRCh37
NC_000004.10:g.122988335dup	NCBI36
NG_009111.1:g.27767dup

Transcript Alleles

HGVS	Amino-acid Change
NM_176824.3:c.935-215dup MANE Select	NP_789794.1:n.935-215dup
ENST00000264499.9:c.935-215dup MANE Select	ENSP00000264499.4:n.935-215dup
NM_018190.3:c.935-215dup	NP_060660.2:n.935-215dup
NM_018190.4:c.935-215dup	NP_060660.2:n.935-215dup
NM_176824.2:c.935-215dup	NP_789794.1:n.935-215dup
ENST00000264499.8:c.935-215dup	ENSP00000264499.4:n.935-215dup
ENST00000506636.1:c.935-215dup	ENSP00000423626.1:n.935-215dup
XM_005263106.2:c.938-215dup	XP_005263163.1:n.938-215dup
XM_005263106.4:c.938-215dup	XP_005263163.1:n.938-215dup
XM_011532079.1:c.983-215dup	XP_011530381.1:n.983-215dup
XM_011532079.3:c.983-215dup	XP_011530381.1:n.983-215dup
XM_011532080.1:c.980-215dup	XP_011530382.1:n.980-215dup
XM_011532080.3:c.980-215dup	XP_011530382.1:n.980-215dup
XM_011532081.1:c.983-215dup	XP_011530383.1:n.983-215dup
XM_011532081.3:c.983-215dup	XP_011530383.1:n.983-215dup
XM_017008357.2:c.935-215dup	XP_016863846.1:n.935-215dup
XM_017008358.2:c.938-215dup	XP_016863847.1:n.938-215dup