Canonical Allele Identifier: CA2047353269
Gene: BBS10 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346356_76346359delinsGTTC , CM000674.2:g.76346356_76346359delinsGTTC GRCh38
NC_000012.11:g.76740136_76740139delinsGTTC , CM000674.1:g.76740136_76740139delinsGTTC GRCh37
NC_000012.10:g.75264267_75264270delinsGTTC NCBI36
NG_016357.1:g.7084_7087delinsGAAC

Transcript Alleles

HGVS Amino-acid change
ENST00000650064.2:c.1626_1629delinsGAAC MANE Select ENSP00000497413.1:p.Lys542=
ENST00000393262.3:c.1626_1629delinsGAAC ENSP00000376946.3:p.Lys542=
NM_024685.3:c.1626_1629delinsGAAC NP_078961.3:p.Lys542=
NM_024685.4:c.1626_1629delinsGAAC MANE Select NP_078961.3:p.Lys542=
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