Canonical Allele Identifier: CA10603266

Gene: BBS4

Linked Data

• ClinVar Variation Id: 280217
• ClinVar RCV Id: RCV000344104 ; RCV000787534
• dbSNP Id: rs886041464
• gnomAD v4: 15-72735184-T-A
• MyVariant Identifiers: chr15:g.73027525T>A (hg19) ; chr15:g.72735184T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72735184T>A , CM000677.2:g.72735184T>A	GRCh38
NC_000015.9:g.73027525T>A , CM000677.1:g.73027525T>A	GRCh37
NC_000015.8:g.70814578T>A	NCBI36
NG_009416.2:g.54000T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268057.9:c.1106+2T>A MANE Select	ENSP00000268057.4:n.1106+2T>A
ENST00000268057.8:c.1106+2T>A	ENSP00000268057.4:n.1106+2T>A
ENST00000395205.6:c.590+2T>A	ENSP00000378631.3:n.590+2T>A
ENST00000562084.5:c.*1185+2T>A	ENSP00000454718.1:n.*1185+2T>A
ENST00000562219.1:n.543T>A
ENST00000566197.1:c.151+2T>A
ENST00000566400.5:c.*996+2T>A	ENSP00000456759.1:n.*996+2T>A
ENST00000567279.5:c.*960+2T>A	ENSP00000456664.1:n.*960+2T>A
ENST00000569151.1:n.242T>A
NM_001252678.1:c.590+2T>A	NP_001239607.1:n.590+2T>A
NM_033028.4:c.1106+2T>A	NP_149017.2:n.1106+2T>A
NR_045565.1:n.1213+2T>A
NR_045566.1:n.1468+2T>A
XM_006720625.2:c.1037+2T>A	XP_006720688.1:n.1037+2T>A
XM_011521848.1:c.590+2T>A	XP_011520150.1:n.590+2T>A
XM_011521849.1:c.590+2T>A	XP_011520151.1:n.590+2T>A
XM_011521850.1:c.590+2T>A	XP_011520152.1:n.590+2T>A
XM_011521851.1:c.374+2T>A	XP_011520153.1:n.374+2T>A
NM_001320665.1:c.1037+2T>A	NP_001307594.1:n.1037+2T>A
XM_017022450.1:c.1061+2T>A	XP_016877939.1:n.1061+2T>A
XM_017022452.1:c.590+2T>A	XP_016877941.1:n.590+2T>A
XM_017022453.1:c.590+2T>A	XP_016877942.1:n.590+2T>A
XM_017022454.1:c.590+2T>A	XP_016877943.1:n.590+2T>A
NM_033028.5:c.1106+2T>A MANE Select	NP_149017.2:n.1106+2T>A
NM_001252678.2:c.590+2T>A	NP_001239607.1:n.590+2T>A
NM_001320665.2:c.1037+2T>A	NP_001307594.1:n.1037+2T>A
NR_045565.2:n.1185+2T>A
NR_045566.2:n.1440+2T>A