Canonical Allele Identifier: CA2047353089
Gene: BBS10 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345932_76345933delinsAT , CM000674.2:g.76345932_76345933delinsAT GRCh38
NC_000012.11:g.76739712_76739713delinsAT , CM000674.1:g.76739712_76739713delinsAT GRCh37
NC_000012.10:g.75263843_75263844delinsAT NCBI36
NG_016357.1:g.7510_7511delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.2052_2053delinsAT MANE Select ENSP00000497413.1:p.Lys684=
ENST00000393262.3:c.2052_2053delinsAT ENSP00000376946.3:p.Lys684=
NM_024685.3:c.2052_2053delinsAT NP_078961.3:p.Lys684=
NM_024685.4:c.2052_2053delinsAT MANE Select NP_078961.3:p.Lys684=
Search 100 bp 5'
Search 100 bp 3'