Canonical Allele Identifier: CA949387557
Gene: BBS10 HGNC NCBI

Linked Data

dbSNP Id: rs1951753045
gnomAD v3: 12-76345840-GTGAA-G
gnomAD v4: 12-76345840-GTGAA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345841_76345844del , CM000674.2:g.76345841_76345844del GRCh38
NC_000012.11:g.76739621_76739624del , CM000674.1:g.76739621_76739624del GRCh37
NC_000012.10:g.75263752_75263755del NCBI36
NG_016357.1:g.7599_7602del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.2141_2144del MANE Select ENSP00000497413.1:p.Val714AlafsTer15
ENST00000393262.3:c.2141_2144del ENSP00000376946.3:p.Val714AlafsTer15
NM_024685.3:c.2141_2144del NP_078961.3:p.Val714AlafsTer15
NM_024685.4:c.2141_2144del MANE Select NP_078961.3:p.Val714AlafsTer15
Search 100 bp 5'
Search 100 bp 3'