Canonical Allele Identifier: CA2661827936

Gene: BBS5

Linked Data

• gnomAD v4: 2-169487733-T-TCA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169487733_169487734insCA , CM000664.2:g.169487733_169487734insCA	GRCh38
NC_000002.11:g.170344243_170344244insCA , CM000664.1:g.170344243_170344244insCA	GRCh37
NC_000002.10:g.170052489_170052490insCA	NCBI36
NG_011567.1:g.13238_13239insCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000295240.8:c.209-73_209-72insCA MANE Select	ENSP00000295240.3:n.209-73_209-72insCA
ENST00000295240.7:c.209-73_209-72insCA	ENSP00000295240.3:n.209-73_209-72insCA
ENST00000392663.6:c.209-73_209-72insCA	ENSP00000376431.2:n.209-73_209-72insCA
ENST00000443151.1:c.143-254_143-253insCA	ENSP00000406182.1:n.143-254_143-253insCA
ENST00000513963.1:c.209-73_209-72insCA	ENSP00000424363.1:n.209-73_209-72insCA
NM_152384.2:c.209-73_209-72insCA	NP_689597.1:n.209-73_209-72insCA
NM_152384.3:c.209-73_209-72insCA MANE Select	NP_689597.1:n.209-73_209-72insCA