Canonical Allele Identifier: CA2763339302

Gene: BBS7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121854912_121854913insCC , CM000666.2:g.121854912_121854913insCC	GRCh38
NC_000004.11:g.122776067_122776068insCC , CM000666.1:g.122776067_122776068insCC	GRCh37
NC_000004.10:g.122995517_122995518insCC	NCBI36
NG_009111.1:g.20575_20576insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.602-93_602-92insGG MANE Select	ENSP00000264499.4:n.602-93_602-92insGG
ENST00000264499.8:c.602-93_602-92insGG	ENSP00000264499.4:n.602-93_602-92insGG
ENST00000506636.1:c.602-93_602-92insGG	ENSP00000423626.1:n.602-93_602-92insGG
NM_018190.3:c.602-93_602-92insGG	NP_060660.2:n.602-93_602-92insGG
NM_176824.2:c.602-93_602-92insGG	NP_789794.1:n.602-93_602-92insGG
XM_005263106.2:c.602-90_602-89insGG	XP_005263163.1:n.602-90_602-89insGG
XM_011532079.1:c.647-90_647-89insGG	XP_011530381.1:n.647-90_647-89insGG
XM_011532080.1:c.647-93_647-92insGG	XP_011530382.1:n.647-93_647-92insGG
XM_011532081.1:c.647-90_647-89insGG	XP_011530383.1:n.647-90_647-89insGG
XM_005263106.4:c.602-90_602-89insGG	XP_005263163.1:n.602-90_602-89insGG
XM_011532079.3:c.647-90_647-89insGG	XP_011530381.1:n.647-90_647-89insGG
XM_011532080.3:c.647-93_647-92insGG	XP_011530382.1:n.647-93_647-92insGG
XM_011532081.3:c.647-90_647-89insGG	XP_011530383.1:n.647-90_647-89insGG
XM_017008357.2:c.602-93_602-92insGG	XP_016863846.1:n.602-93_602-92insGG
XM_017008358.2:c.602-90_602-89insGG	XP_016863847.1:n.602-90_602-89insGG
NM_176824.3:c.602-93_602-92insGG MANE Select	NP_789794.1:n.602-93_602-92insGG
NM_018190.4:c.602-93_602-92insGG	NP_060660.2:n.602-93_602-92insGG