Canonical Allele Identifier: CA1490026068

Gene: BBS7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121854941_121854944delinsATTG , CM000666.2:g.121854941_121854944delinsATTG	GRCh38
NC_000004.11:g.122776096_122776099delinsATTG , CM000666.1:g.122776096_122776099delinsATTG	GRCh37
NC_000004.10:g.122995546_122995549delinsATTG	NCBI36
NG_009111.1:g.20544_20547delinsCAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.602-124_602-121delinsCAAT MANE Select	ENSP00000264499.4:n.602-124_602-121delinsCAAT
ENST00000264499.8:c.602-124_602-121delinsCAAT	ENSP00000264499.4:n.602-124_602-121delinsCAAT
ENST00000506636.1:c.602-124_602-121delinsCAAT	ENSP00000423626.1:n.602-124_602-121delinsCAAT
NM_018190.3:c.602-124_602-121delinsCAAT	NP_060660.2:n.602-124_602-121delinsCAAT
NM_176824.2:c.602-124_602-121delinsCAAT	NP_789794.1:n.602-124_602-121delinsCAAT
XM_005263106.2:c.602-121_602-118delinsCAAT	XP_005263163.1:n.602-121_602-118delinsCAAT
XM_011532079.1:c.647-121_647-118delinsCAAT	XP_011530381.1:n.647-121_647-118delinsCAAT
XM_011532080.1:c.647-124_647-121delinsCAAT	XP_011530382.1:n.647-124_647-121delinsCAAT
XM_011532081.1:c.647-121_647-118delinsCAAT	XP_011530383.1:n.647-121_647-118delinsCAAT
XM_005263106.4:c.602-121_602-118delinsCAAT	XP_005263163.1:n.602-121_602-118delinsCAAT
XM_011532079.3:c.647-121_647-118delinsCAAT	XP_011530381.1:n.647-121_647-118delinsCAAT
XM_011532080.3:c.647-124_647-121delinsCAAT	XP_011530382.1:n.647-124_647-121delinsCAAT
XM_011532081.3:c.647-121_647-118delinsCAAT	XP_011530383.1:n.647-121_647-118delinsCAAT
XM_017008357.2:c.602-124_602-121delinsCAAT	XP_016863846.1:n.602-124_602-121delinsCAAT
XM_017008358.2:c.602-121_602-118delinsCAAT	XP_016863847.1:n.602-121_602-118delinsCAAT
NM_176824.3:c.602-124_602-121delinsCAAT MANE Select	NP_789794.1:n.602-124_602-121delinsCAAT
NM_018190.4:c.602-124_602-121delinsCAAT	NP_060660.2:n.602-124_602-121delinsCAAT