Canonical Allele Identifier: CA2763339282

Gene: BBS7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121854893_121854894insACAT , CM000666.2:g.121854893_121854894insACAT	GRCh38
NC_000004.11:g.122776048_122776049insACAT , CM000666.1:g.122776048_122776049insACAT	GRCh37
NC_000004.10:g.122995498_122995499insACAT	NCBI36
NG_009111.1:g.20594_20595insATGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.602-74_602-73insATGT MANE Select	ENSP00000264499.4:n.602-74_602-73insATGT
ENST00000264499.8:c.602-74_602-73insATGT	ENSP00000264499.4:n.602-74_602-73insATGT
ENST00000506636.1:c.602-74_602-73insATGT	ENSP00000423626.1:n.602-74_602-73insATGT
NM_018190.3:c.602-74_602-73insATGT	NP_060660.2:n.602-74_602-73insATGT
NM_176824.2:c.602-74_602-73insATGT	NP_789794.1:n.602-74_602-73insATGT
XM_005263106.2:c.602-71_602-70insATGT	XP_005263163.1:n.602-71_602-70insATGT
XM_011532079.1:c.647-71_647-70insATGT	XP_011530381.1:n.647-71_647-70insATGT
XM_011532080.1:c.647-74_647-73insATGT	XP_011530382.1:n.647-74_647-73insATGT
XM_011532081.1:c.647-71_647-70insATGT	XP_011530383.1:n.647-71_647-70insATGT
XM_005263106.4:c.602-71_602-70insATGT	XP_005263163.1:n.602-71_602-70insATGT
XM_011532079.3:c.647-71_647-70insATGT	XP_011530381.1:n.647-71_647-70insATGT
XM_011532080.3:c.647-74_647-73insATGT	XP_011530382.1:n.647-74_647-73insATGT
XM_011532081.3:c.647-71_647-70insATGT	XP_011530383.1:n.647-71_647-70insATGT
XM_017008357.2:c.602-74_602-73insATGT	XP_016863846.1:n.602-74_602-73insATGT
XM_017008358.2:c.602-71_602-70insATGT	XP_016863847.1:n.602-71_602-70insATGT
NM_176824.3:c.602-74_602-73insATGT MANE Select	NP_789794.1:n.602-74_602-73insATGT
NM_018190.4:c.602-74_602-73insATGT	NP_060660.2:n.602-74_602-73insATGT