Canonical Allele Identifier: CA1490026051

Gene: BBS7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121854902_121854905delinsTATC , CM000666.2:g.121854902_121854905delinsTATC	GRCh38
NC_000004.11:g.122776057_122776060delinsTATC , CM000666.1:g.122776057_122776060delinsTATC	GRCh37
NC_000004.10:g.122995507_122995510delinsTATC	NCBI36
NG_009111.1:g.20583_20586delinsGATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.602-85_602-82delinsGATA MANE Select	ENSP00000264499.4:n.602-85_602-82delinsGATA
ENST00000264499.8:c.602-85_602-82delinsGATA	ENSP00000264499.4:n.602-85_602-82delinsGATA
ENST00000506636.1:c.602-85_602-82delinsGATA	ENSP00000423626.1:n.602-85_602-82delinsGATA
NM_018190.3:c.602-85_602-82delinsGATA	NP_060660.2:n.602-85_602-82delinsGATA
NM_176824.2:c.602-85_602-82delinsGATA	NP_789794.1:n.602-85_602-82delinsGATA
XM_005263106.2:c.602-82_602-79delinsGATA	XP_005263163.1:n.602-82_602-79delinsGATA
XM_011532079.1:c.647-82_647-79delinsGATA	XP_011530381.1:n.647-82_647-79delinsGATA
XM_011532080.1:c.647-85_647-82delinsGATA	XP_011530382.1:n.647-85_647-82delinsGATA
XM_011532081.1:c.647-82_647-79delinsGATA	XP_011530383.1:n.647-82_647-79delinsGATA
XM_005263106.4:c.602-82_602-79delinsGATA	XP_005263163.1:n.602-82_602-79delinsGATA
XM_011532079.3:c.647-82_647-79delinsGATA	XP_011530381.1:n.647-82_647-79delinsGATA
XM_011532080.3:c.647-85_647-82delinsGATA	XP_011530382.1:n.647-85_647-82delinsGATA
XM_011532081.3:c.647-82_647-79delinsGATA	XP_011530383.1:n.647-82_647-79delinsGATA
XM_017008357.2:c.602-85_602-82delinsGATA	XP_016863846.1:n.602-85_602-82delinsGATA
XM_017008358.2:c.602-82_602-79delinsGATA	XP_016863847.1:n.602-82_602-79delinsGATA
NM_176824.3:c.602-85_602-82delinsGATA MANE Select	NP_789794.1:n.602-85_602-82delinsGATA
NM_018190.4:c.602-85_602-82delinsGATA	NP_060660.2:n.602-85_602-82delinsGATA