Canonical Allele Identifier: CA645577109
Gene: BBS10 HGNC NCBI

Linked Data

COSMIC: COSM5018377
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345836del , CM000674.2:g.76345836del GRCh38
NC_000012.11:g.76739616del , CM000674.1:g.76739616del GRCh37
NC_000012.10:g.75263747del NCBI36
NG_016357.1:g.7607del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.2149del MANE Select ENSP00000497413.1:p.Gln717LysfsTer13
ENST00000393262.3:c.2149del ENSP00000376946.3:p.Gln717LysfsTer13
NM_024685.3:c.2149del NP_078961.3:p.Gln717LysfsTer13
NM_024685.4:c.2149del MANE Select NP_078961.3:p.Gln717LysfsTer13
Search 100 bp 5'
Search 100 bp 3'