Canonical Allele Identifier: CA6694041
Gene: BBS10 HGNC NCBI

Linked Data

dbSNP Id: rs745903306
ExAC: 12:76739584 CT / C
gnomAD v2: 12-76739584-CT-C
gnomAD v3: 12-76345804-CT-C
gnomAD v4: 12-76345804-CT-C
MyVariant Identifiers: chr12:g.76739585del (hg19) chr12:g.76345805del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345806del , CM000674.2:g.76345806del GRCh38
NC_000012.11:g.76739586del , CM000674.1:g.76739586del GRCh37
NC_000012.10:g.75263717del NCBI36
NG_016357.1:g.7638del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.*8del MANE Select ENSP00000497413.1:n.*8del
ENST00000393262.3:c.*8del ENSP00000376946.3:n.*8del
NM_024685.3:c.*8del NP_078961.3:n.*8del
NM_024685.4:c.*8del MANE Select NP_078961.3:n.*8del
Search 100 bp 5'
Search 100 bp 3'