Canonical Allele Identifier: CA3064361

Gene: BBS7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121848814_121848817del , CM000666.2:g.121848814_121848817del	GRCh38
NC_000004.11:g.122769969_122769972del , CM000666.1:g.122769969_122769972del	GRCh37
NC_000004.10:g.122989419_122989422del	NCBI36
NG_009111.1:g.26675_26678del

Transcript Alleles

HGVS	Amino-acid Change
NM_176824.3:c.934+31_934+34del MANE Select	NP_789794.1:n.934+31_934+34del
ENST00000264499.9:c.934+31_934+34del MANE Select	ENSP00000264499.4:n.934+31_934+34del
NM_018190.3:c.934+31_934+34del	NP_060660.2:n.934+31_934+34del
NM_018190.4:c.934+31_934+34del	NP_060660.2:n.934+31_934+34del
NM_176824.2:c.934+31_934+34del	NP_789794.1:n.934+31_934+34del
ENST00000264499.8:c.934+31_934+34del	ENSP00000264499.4:n.934+31_934+34del
ENST00000506636.1:c.934+31_934+34del	ENSP00000423626.1:n.934+31_934+34del
XM_005263106.2:c.937+31_937+34del	XP_005263163.1:n.937+31_937+34del
XM_005263106.4:c.937+31_937+34del	XP_005263163.1:n.937+31_937+34del
XM_011532079.1:c.982+31_982+34del	XP_011530381.1:n.982+31_982+34del
XM_011532079.3:c.982+31_982+34del	XP_011530381.1:n.982+31_982+34del
XM_011532080.1:c.979+31_979+34del	XP_011530382.1:n.979+31_979+34del
XM_011532080.3:c.979+31_979+34del	XP_011530382.1:n.979+31_979+34del
XM_011532081.1:c.982+31_982+34del	XP_011530383.1:n.982+31_982+34del
XM_011532081.3:c.982+31_982+34del	XP_011530383.1:n.982+31_982+34del
XM_017008357.2:c.934+31_934+34del	XP_016863846.1:n.934+31_934+34del
XM_017008358.2:c.937+31_937+34del	XP_016863847.1:n.937+31_937+34del