Canonical Allele Identifier: CA1490025900

Gene: BBS7

Linked Data

• dbSNP Id: rs1726496619

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121854542_121854544del , CM000666.2:g.121854542_121854544del	GRCh38
NC_000004.11:g.122775697_122775699del , CM000666.1:g.122775697_122775699del	GRCh37
NC_000004.10:g.122995147_122995149del	NCBI36
NG_009111.1:g.20945_20947del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.718+161_718+163del MANE Select	ENSP00000264499.4:n.718+161_718+163del
ENST00000264499.8:c.718+161_718+163del	ENSP00000264499.4:n.718+161_718+163del
ENST00000506636.1:c.718+161_718+163del	ENSP00000423626.1:n.718+161_718+163del
NM_018190.3:c.718+161_718+163del	NP_060660.2:n.718+161_718+163del
NM_176824.2:c.718+161_718+163del	NP_789794.1:n.718+161_718+163del
XM_005263106.2:c.721+161_721+163del	XP_005263163.1:n.721+161_721+163del
XM_011532079.1:c.766+161_766+163del	XP_011530381.1:n.766+161_766+163del
XM_011532080.1:c.763+161_763+163del	XP_011530382.1:n.763+161_763+163del
XM_011532081.1:c.766+161_766+163del	XP_011530383.1:n.766+161_766+163del
XM_005263106.4:c.721+161_721+163del	XP_005263163.1:n.721+161_721+163del
XM_011532079.3:c.766+161_766+163del	XP_011530381.1:n.766+161_766+163del
XM_011532080.3:c.763+161_763+163del	XP_011530382.1:n.763+161_763+163del
XM_011532081.3:c.766+161_766+163del	XP_011530383.1:n.766+161_766+163del
XM_017008357.2:c.718+161_718+163del	XP_016863846.1:n.718+161_718+163del
XM_017008358.2:c.721+161_721+163del	XP_016863847.1:n.721+161_721+163del
NM_176824.3:c.718+161_718+163del MANE Select	NP_789794.1:n.718+161_718+163del
NM_018190.4:c.718+161_718+163del	NP_060660.2:n.718+161_718+163del