Canonical Allele Identifier: CA949387593
Gene: BBS10 HGNC NCBI

Linked Data

dbSNP Id: rs1951753291
gnomAD v3: 12-76345867-A-AT
gnomAD v4: 12-76345867-A-AT
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345867_76345868insT , CM000674.2:g.76345867_76345868insT GRCh38
NC_000012.11:g.76739647_76739648insT , CM000674.1:g.76739647_76739648insT GRCh37
NC_000012.10:g.75263778_75263779insT NCBI36
NG_016357.1:g.7575_7576insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.2117_2118insA MANE Select ENSP00000497413.1:p.Val707CysfsTer2
ENST00000393262.3:c.2117_2118insA ENSP00000376946.3:p.Val707CysfsTer2
NM_024685.3:c.2117_2118insA NP_078961.3:p.Val707CysfsTer2
NM_024685.4:c.2117_2118insA MANE Select NP_078961.3:p.Val707CysfsTer2
Search 100 bp 5'
Search 100 bp 3'