Canonical Allele Identifier: CA1490026075

Gene: BBS7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121854970_121854972delinsATT , CM000666.2:g.121854970_121854972delinsATT	GRCh38
NC_000004.11:g.122776125_122776127delinsATT , CM000666.1:g.122776125_122776127delinsATT	GRCh37
NC_000004.10:g.122995575_122995577delinsATT	NCBI36
NG_009111.1:g.20516_20518delinsAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.602-152_602-150delinsAAT MANE Select	ENSP00000264499.4:n.602-152_602-150delinsAAT
ENST00000264499.8:c.602-152_602-150delinsAAT	ENSP00000264499.4:n.602-152_602-150delinsAAT
ENST00000506636.1:c.602-152_602-150delinsAAT	ENSP00000423626.1:n.602-152_602-150delinsAAT
NM_018190.3:c.602-152_602-150delinsAAT	NP_060660.2:n.602-152_602-150delinsAAT
NM_176824.2:c.602-152_602-150delinsAAT	NP_789794.1:n.602-152_602-150delinsAAT
XM_005263106.2:c.602-149_602-147delinsAAT	XP_005263163.1:n.602-149_602-147delinsAAT
XM_011532079.1:c.647-149_647-147delinsAAT	XP_011530381.1:n.647-149_647-147delinsAAT
XM_011532080.1:c.647-152_647-150delinsAAT	XP_011530382.1:n.647-152_647-150delinsAAT
XM_011532081.1:c.647-149_647-147delinsAAT	XP_011530383.1:n.647-149_647-147delinsAAT
XM_005263106.4:c.602-149_602-147delinsAAT	XP_005263163.1:n.602-149_602-147delinsAAT
XM_011532079.3:c.647-149_647-147delinsAAT	XP_011530381.1:n.647-149_647-147delinsAAT
XM_011532080.3:c.647-152_647-150delinsAAT	XP_011530382.1:n.647-152_647-150delinsAAT
XM_011532081.3:c.647-149_647-147delinsAAT	XP_011530383.1:n.647-149_647-147delinsAAT
XM_017008357.2:c.602-152_602-150delinsAAT	XP_016863846.1:n.602-152_602-150delinsAAT
XM_017008358.2:c.602-149_602-147delinsAAT	XP_016863847.1:n.602-149_602-147delinsAAT
NM_176824.3:c.602-152_602-150delinsAAT MANE Select	NP_789794.1:n.602-152_602-150delinsAAT
NM_018190.4:c.602-152_602-150delinsAAT	NP_060660.2:n.602-152_602-150delinsAAT