Canonical Allele Identifier: CA2619945593
Gene: BBS10 HGNC NCBI

Linked Data

gnomAD v4: 12-76346253-AGCTCACTGGTAACAT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346257_76346271del , CM000674.2:g.76346257_76346271del GRCh38
NC_000012.11:g.76740037_76740051del , CM000674.1:g.76740037_76740051del GRCh37
NC_000012.10:g.75264168_75264182del NCBI36
NG_016357.1:g.7175_7189del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1717_1731del MANE Select ENSP00000497413.1:p.Met573_Ser577del
ENST00000393262.3:c.1717_1731del ENSP00000376946.3:p.Met573_Ser577del
NM_024685.3:c.1717_1731del NP_078961.3:p.Met573_Ser577del
NM_024685.4:c.1717_1731del MANE Select NP_078961.3:p.Met573_Ser577del
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