Canonical Allele Identifier: CA1490026044

Gene: BBS7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121854885_121854888delinsATGT , CM000666.2:g.121854885_121854888delinsATGT	GRCh38
NC_000004.11:g.122776040_122776043delinsATGT , CM000666.1:g.122776040_122776043delinsATGT	GRCh37
NC_000004.10:g.122995490_122995493delinsATGT	NCBI36
NG_009111.1:g.20600_20603delinsACAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.602-68_602-65delinsACAT MANE Select	ENSP00000264499.4:n.602-68_602-65delinsACAT
ENST00000264499.8:c.602-68_602-65delinsACAT	ENSP00000264499.4:n.602-68_602-65delinsACAT
ENST00000506636.1:c.602-68_602-65delinsACAT	ENSP00000423626.1:n.602-68_602-65delinsACAT
NM_018190.3:c.602-68_602-65delinsACAT	NP_060660.2:n.602-68_602-65delinsACAT
NM_176824.2:c.602-68_602-65delinsACAT	NP_789794.1:n.602-68_602-65delinsACAT
XM_005263106.2:c.602-65_602-62delinsACAT	XP_005263163.1:n.602-65_602-62delinsACAT
XM_011532079.1:c.647-65_647-62delinsACAT	XP_011530381.1:n.647-65_647-62delinsACAT
XM_011532080.1:c.647-68_647-65delinsACAT	XP_011530382.1:n.647-68_647-65delinsACAT
XM_011532081.1:c.647-65_647-62delinsACAT	XP_011530383.1:n.647-65_647-62delinsACAT
XM_005263106.4:c.602-65_602-62delinsACAT	XP_005263163.1:n.602-65_602-62delinsACAT
XM_011532079.3:c.647-65_647-62delinsACAT	XP_011530381.1:n.647-65_647-62delinsACAT
XM_011532080.3:c.647-68_647-65delinsACAT	XP_011530382.1:n.647-68_647-65delinsACAT
XM_011532081.3:c.647-65_647-62delinsACAT	XP_011530383.1:n.647-65_647-62delinsACAT
XM_017008357.2:c.602-68_602-65delinsACAT	XP_016863846.1:n.602-68_602-65delinsACAT
XM_017008358.2:c.602-65_602-62delinsACAT	XP_016863847.1:n.602-65_602-62delinsACAT
NM_176824.3:c.602-68_602-65delinsACAT MANE Select	NP_789794.1:n.602-68_602-65delinsACAT
NM_018190.4:c.602-68_602-65delinsACAT	NP_060660.2:n.602-68_602-65delinsACAT