Canonical Allele Identifier: CA2047353565
Gene: BBS10 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346960_76346961delinsAT , CM000674.2:g.76346960_76346961delinsAT GRCh38
NC_000012.11:g.76740740_76740741delinsAT , CM000674.1:g.76740740_76740741delinsAT GRCh37
NC_000012.10:g.75264871_75264872delinsAT NCBI36
NG_016357.1:g.6482_6483delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1024_1025delinsAT MANE Select ENSP00000497413.1:p.Ile342=
ENST00000393262.3:c.1024_1025delinsAT ENSP00000376946.3:p.Ile342=
NM_024685.3:c.1024_1025delinsAT NP_078961.3:p.Ile342=
NM_024685.4:c.1024_1025delinsAT MANE Select NP_078961.3:p.Ile342=
Search 100 bp 5'
Search 100 bp 3'