Canonical Allele Identifier: CA2763339244

Gene: BBS7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121854870_121854871insAG , CM000666.2:g.121854870_121854871insAG	GRCh38
NC_000004.11:g.122776025_122776026insAG , CM000666.1:g.122776025_122776026insAG	GRCh37
NC_000004.10:g.122995475_122995476insAG	NCBI36
NG_009111.1:g.20617_20618insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.602-51_602-50insCT MANE Select	ENSP00000264499.4:n.602-51_602-50insCT
ENST00000264499.8:c.602-51_602-50insCT	ENSP00000264499.4:n.602-51_602-50insCT
ENST00000506636.1:c.602-51_602-50insCT	ENSP00000423626.1:n.602-51_602-50insCT
NM_018190.3:c.602-51_602-50insCT	NP_060660.2:n.602-51_602-50insCT
NM_176824.2:c.602-51_602-50insCT	NP_789794.1:n.602-51_602-50insCT
XM_005263106.2:c.602-48_602-47insCT	XP_005263163.1:n.602-48_602-47insCT
XM_011532079.1:c.647-48_647-47insCT	XP_011530381.1:n.647-48_647-47insCT
XM_011532080.1:c.647-51_647-50insCT	XP_011530382.1:n.647-51_647-50insCT
XM_011532081.1:c.647-48_647-47insCT	XP_011530383.1:n.647-48_647-47insCT
XM_005263106.4:c.602-48_602-47insCT	XP_005263163.1:n.602-48_602-47insCT
XM_011532079.3:c.647-48_647-47insCT	XP_011530381.1:n.647-48_647-47insCT
XM_011532080.3:c.647-51_647-50insCT	XP_011530382.1:n.647-51_647-50insCT
XM_011532081.3:c.647-48_647-47insCT	XP_011530383.1:n.647-48_647-47insCT
XM_017008357.2:c.602-51_602-50insCT	XP_016863846.1:n.602-51_602-50insCT
XM_017008358.2:c.602-48_602-47insCT	XP_016863847.1:n.602-48_602-47insCT
NM_176824.3:c.602-51_602-50insCT MANE Select	NP_789794.1:n.602-51_602-50insCT
NM_018190.4:c.602-51_602-50insCT	NP_060660.2:n.602-51_602-50insCT