Canonical Allele Identifier: CA2615989122

Gene: TIMM8B

Linked Data

• gnomAD v4: 11-112086716-T-TCCGCCATTGTTCGCCTCAGGCTCG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112086719_112086742dup , CM000673.2:g.112086719_112086742dup	GRCh38
NC_000011.9:g.111957443_111957466dup , CM000673.1:g.111957443_111957466dup	GRCh37
NC_000011.8:g.111462653_111462676dup	NCBI36
NG_012337.2:g.4873_4896dup
NG_033145.1:g.5059_5082dup
NG_012337.3:g.4873_4896dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504148.3:c.-17_7dup MANE Select	ENSP00000422122.2:p.Ala2_Glu3insAlaSerLeuArgArgThrMetAla
ENST00000504148.2:c.-17_7dup	ENSP00000422122.2:p.Ala2_Glu3insAlaSerLeuArgArgThrMetAla
ENST00000509359.6:c.-17_7dup	ENSP00000421964.2:p.Ala2_Glu3insAlaSerLeuArgArgThrMetAla
ENST00000541231.1:c.29_52dup	ENSP00000438455.1:p.Ala17_Glu18insAlaSerLeuArgArgThrMetAla
NM_012459.2:c.29_52dup	NP_036591.2:p.Ala17_Glu18insAlaSerLeuArgArgThrMetAla
NR_028383.1:n.59_82dup
NM_012459.3:c.-17_7dup	NP_036591.3:p.Ala2_Glu3insAlaSerLeuArgArgThrMetAla
NR_028383.2:n.17_40dup
NR_160400.1:n.17_40dup
NM_012459.4:c.-17_7dup MANE Select	NP_036591.3:p.Ala2_Glu3insAlaSerLeuArgArgThrMetAla