Canonical Allele Identifier: CA2671949243

Gene: BBS7

Linked Data

• gnomAD v4: 4-121854930-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121854930_121854931insG , CM000666.2:g.121854930_121854931insG	GRCh38
NC_000004.11:g.122776085_122776086insG , CM000666.1:g.122776085_122776086insG	GRCh37
NC_000004.10:g.122995535_122995536insG	NCBI36
NG_009111.1:g.20557_20558insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.602-111_602-110insC MANE Select	ENSP00000264499.4:n.602-111_602-110insC
ENST00000264499.8:c.602-111_602-110insC	ENSP00000264499.4:n.602-111_602-110insC
ENST00000506636.1:c.602-111_602-110insC	ENSP00000423626.1:n.602-111_602-110insC
NM_018190.3:c.602-111_602-110insC	NP_060660.2:n.602-111_602-110insC
NM_176824.2:c.602-111_602-110insC	NP_789794.1:n.602-111_602-110insC
XM_005263106.2:c.602-108_602-107insC	XP_005263163.1:n.602-108_602-107insC
XM_011532079.1:c.647-108_647-107insC	XP_011530381.1:n.647-108_647-107insC
XM_011532080.1:c.647-111_647-110insC	XP_011530382.1:n.647-111_647-110insC
XM_011532081.1:c.647-108_647-107insC	XP_011530383.1:n.647-108_647-107insC
XM_005263106.4:c.602-108_602-107insC	XP_005263163.1:n.602-108_602-107insC
XM_011532079.3:c.647-108_647-107insC	XP_011530381.1:n.647-108_647-107insC
XM_011532080.3:c.647-111_647-110insC	XP_011530382.1:n.647-111_647-110insC
XM_011532081.3:c.647-108_647-107insC	XP_011530383.1:n.647-108_647-107insC
XM_017008357.2:c.602-111_602-110insC	XP_016863846.1:n.602-111_602-110insC
XM_017008358.2:c.602-108_602-107insC	XP_016863847.1:n.602-108_602-107insC
NM_176824.3:c.602-111_602-110insC MANE Select	NP_789794.1:n.602-111_602-110insC
NM_018190.4:c.602-111_602-110insC	NP_060660.2:n.602-111_602-110insC