Canonical Allele Identifier: CA2574979558
Gene: TIMM8B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112086722_112086731del , CM000673.2:g.112086722_112086731del GRCh38
NC_000011.9:g.111957446_111957455del , CM000673.1:g.111957446_111957455del GRCh37
NC_000011.8:g.111462656_111462665del NCBI36
NG_012337.2:g.4876_4885del
NG_033145.1:g.5072_5081del
NG_012337.3:g.4876_4885del

Transcript Alleles

HGVS Amino-acid Change
ENST00000504148.3:c.-4_6del
ENST00000504148.2:c.-4_6del
ENST00000509359.6:c.-4_6del
ENST00000541231.1:c.42_51del ENSP00000438455.1:p.Thr15SerfsTer?
NM_012459.2:c.42_51del NP_036591.2:p.Thr15SerfsTer?
NR_028383.1:n.72_81del
NM_012459.3:c.-4_6del
NR_028383.2:n.30_39del
NR_160400.1:n.30_39del
NM_012459.4:c.-4_6del