Canonical Allele Identifier: CA1490026076
Gene: BBS7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.121854974T= , CM000666.2:g.121854974T= GRCh38
NC_000004.11:g.122776129T= , CM000666.1:g.122776129T= GRCh37
NC_000004.10:g.122995579T= NCBI36
NG_009111.1:g.20514A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264499.9:c.602-154A= MANE Select ENSP00000264499.4:n.602-154A=
ENST00000264499.8:c.602-154A= ENSP00000264499.4:n.602-154A=
ENST00000506636.1:c.602-154A= ENSP00000423626.1:n.602-154A=
NM_018190.3:c.602-154A= NP_060660.2:n.602-154A=
NM_176824.2:c.602-154A= NP_789794.1:n.602-154A=
XM_005263106.2:c.602-151A= XP_005263163.1:n.602-151A=
XM_011532079.1:c.647-151A= XP_011530381.1:n.647-151A=
XM_011532080.1:c.647-154A= XP_011530382.1:n.647-154A=
XM_011532081.1:c.647-151A= XP_011530383.1:n.647-151A=
XM_005263106.4:c.602-151A= XP_005263163.1:n.602-151A=
XM_011532079.3:c.647-151A= XP_011530381.1:n.647-151A=
XM_011532080.3:c.647-154A= XP_011530382.1:n.647-154A=
XM_011532081.3:c.647-151A= XP_011530383.1:n.647-151A=
XM_017008357.2:c.602-154A= XP_016863846.1:n.602-154A=
XM_017008358.2:c.602-151A= XP_016863847.1:n.602-151A=
NM_176824.3:c.602-154A= MANE Select NP_789794.1:n.602-154A=
NM_018190.4:c.602-154A= NP_060660.2:n.602-154A=