Canonical Allele Identifier: CA2671947680

Gene: BBS7

Linked Data

• gnomAD v4: 4-121828180-G-GTAT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121828182_121828184dup , CM000666.2:g.121828182_121828184dup	GRCh38
NC_000004.11:g.122749337_122749339dup , CM000666.1:g.122749337_122749339dup	GRCh37
NC_000004.10:g.122968787_122968789dup	NCBI36
NG_009111.1:g.47305_47307dup
NG_052974.1:g.819_821dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000264499.9:c.1977_1979dup MANE Select	ENSP00000264499.4:p.Tyr660Ter
ENST00000264499.8:c.1977_1979dup	ENSP00000264499.4:p.Tyr660Ter
ENST00000506636.1:c.1977_1979dup	ENSP00000423626.1:p.Tyr660Ter
ENST00000507814.5:c.246_248dup	ENSP00000423250.1:p.Tyr83Ter
NM_018190.3:c.1977_1979dup	NP_060660.2:p.Tyr660Ter
NM_176824.2:c.1977_1979dup	NP_789794.1:p.Tyr660Ter
XM_005263106.2:c.1980_1982dup	XP_005263163.1:p.Tyr661Ter
XM_011532079.1:c.2025_2027dup	XP_011530381.1:p.Tyr676Ter
XM_011532080.1:c.2022_2024dup	XP_011530382.1:p.Tyr675Ter
XM_011532081.1:c.1860_1862dup	XP_011530383.1:p.Tyr621Ter
XM_005263106.4:c.1980_1982dup	XP_005263163.1:p.Tyr661Ter
XM_011532079.3:c.2025_2027dup	XP_011530381.1:p.Tyr676Ter
XM_011532080.3:c.2022_2024dup	XP_011530382.1:p.Tyr675Ter
XM_011532081.3:c.1860_1862dup	XP_011530383.1:p.Tyr621Ter
XM_017008357.2:c.1812_1814dup	XP_016863846.1:p.Tyr605Ter
XM_017008358.2:c.1815_1817dup	XP_016863847.1:p.Tyr606Ter
NM_176824.3:c.1977_1979dup MANE Select	NP_789794.1:p.Tyr660Ter
NM_018190.4:c.1977_1979dup	NP_060660.2:p.Tyr660Ter