Canonical Allele Identifier: CA648836218

Gene: BBS7

Linked Data

• COSMIC: COSN25484657

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121854995_121854996insAT , CM000666.2:g.121854995_121854996insAT	GRCh38
NC_000004.11:g.122776150_122776151insAT , CM000666.1:g.122776150_122776151insAT	GRCh37
NC_000004.10:g.122995600_122995601insAT	NCBI36
NG_009111.1:g.20492_20493insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.602-176_602-175insAT MANE Select	ENSP00000264499.4:n.602-176_602-175insAT
ENST00000264499.8:c.602-176_602-175insAT	ENSP00000264499.4:n.602-176_602-175insAT
ENST00000506636.1:c.602-176_602-175insAT	ENSP00000423626.1:n.602-176_602-175insAT
NM_018190.3:c.602-176_602-175insAT	NP_060660.2:n.602-176_602-175insAT
NM_176824.2:c.602-176_602-175insAT	NP_789794.1:n.602-176_602-175insAT
XM_005263106.2:c.602-173_602-172insAT	XP_005263163.1:n.602-173_602-172insAT
XM_011532079.1:c.647-173_647-172insAT	XP_011530381.1:n.647-173_647-172insAT
XM_011532080.1:c.647-176_647-175insAT	XP_011530382.1:n.647-176_647-175insAT
XM_011532081.1:c.647-173_647-172insAT	XP_011530383.1:n.647-173_647-172insAT
XM_005263106.4:c.602-173_602-172insAT	XP_005263163.1:n.602-173_602-172insAT
XM_011532079.3:c.647-173_647-172insAT	XP_011530381.1:n.647-173_647-172insAT
XM_011532080.3:c.647-176_647-175insAT	XP_011530382.1:n.647-176_647-175insAT
XM_011532081.3:c.647-173_647-172insAT	XP_011530383.1:n.647-173_647-172insAT
XM_017008357.2:c.602-176_602-175insAT	XP_016863846.1:n.602-176_602-175insAT
XM_017008358.2:c.602-173_602-172insAT	XP_016863847.1:n.602-173_602-172insAT
NM_176824.3:c.602-176_602-175insAT MANE Select	NP_789794.1:n.602-176_602-175insAT
NM_018190.4:c.602-176_602-175insAT	NP_060660.2:n.602-176_602-175insAT