Canonical Allele Identifier: CA2763339242

Gene: BBS7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121854865_121854866insAC , CM000666.2:g.121854865_121854866insAC	GRCh38
NC_000004.11:g.122776020_122776021insAC , CM000666.1:g.122776020_122776021insAC	GRCh37
NC_000004.10:g.122995470_122995471insAC	NCBI36
NG_009111.1:g.20622_20623insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.602-46_602-45insGT MANE Select	ENSP00000264499.4:n.602-46_602-45insGT
ENST00000264499.8:c.602-46_602-45insGT	ENSP00000264499.4:n.602-46_602-45insGT
ENST00000506636.1:c.602-46_602-45insGT	ENSP00000423626.1:n.602-46_602-45insGT
NM_018190.3:c.602-46_602-45insGT	NP_060660.2:n.602-46_602-45insGT
NM_176824.2:c.602-46_602-45insGT	NP_789794.1:n.602-46_602-45insGT
XM_005263106.2:c.602-43_602-42insGT	XP_005263163.1:n.602-43_602-42insGT
XM_011532079.1:c.647-43_647-42insGT	XP_011530381.1:n.647-43_647-42insGT
XM_011532080.1:c.647-46_647-45insGT	XP_011530382.1:n.647-46_647-45insGT
XM_011532081.1:c.647-43_647-42insGT	XP_011530383.1:n.647-43_647-42insGT
XM_005263106.4:c.602-43_602-42insGT	XP_005263163.1:n.602-43_602-42insGT
XM_011532079.3:c.647-43_647-42insGT	XP_011530381.1:n.647-43_647-42insGT
XM_011532080.3:c.647-46_647-45insGT	XP_011530382.1:n.647-46_647-45insGT
XM_011532081.3:c.647-43_647-42insGT	XP_011530383.1:n.647-43_647-42insGT
XM_017008357.2:c.602-46_602-45insGT	XP_016863846.1:n.602-46_602-45insGT
XM_017008358.2:c.602-43_602-42insGT	XP_016863847.1:n.602-43_602-42insGT
NM_176824.3:c.602-46_602-45insGT MANE Select	NP_789794.1:n.602-46_602-45insGT
NM_018190.4:c.602-46_602-45insGT	NP_060660.2:n.602-46_602-45insGT