Canonical Allele Identifier: CA2575230716
Gene: BBS10 HGNC NCBI

Linked Data

gnomAD v4: 12-76345746-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345748del , CM000674.2:g.76345748del GRCh38
NC_000012.11:g.76739528del , CM000674.1:g.76739528del GRCh37
NC_000012.10:g.75263659del NCBI36
NG_016357.1:g.7696del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.*66del MANE Select ENSP00000497413.1:n.*66del
ENST00000393262.3:c.*66del ENSP00000376946.3:n.*66del
NM_024685.3:c.*66del NP_078961.3:n.*66del
NM_024685.4:c.*66del MANE Select NP_078961.3:n.*66del
Search 100 bp 5'
Search 100 bp 3'