Canonical Allele Identifier: CA2615989097

Gene: TIMM8B

Linked Data

• gnomAD v4: 11-112086705-CTTCGCCCAGCTCCGCCATTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112086712_112086731del , CM000673.2:g.112086712_112086731del	GRCh38
NC_000011.9:g.111957436_111957455del , CM000673.1:g.111957436_111957455del	GRCh37
NC_000011.8:g.111462646_111462665del	NCBI36
NG_012337.2:g.4866_4885del
NG_033145.1:g.5074_5093del
NG_012337.3:g.4866_4885del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504148.3:c.-2_18del
ENST00000504148.2:c.-2_18del
ENST00000509359.6:c.-2_18del
ENST00000541231.1:c.44_63del	ENSP00000438455.1:p.Thr15SerfsTer3
NM_012459.2:c.44_63del	NP_036591.2:p.Thr15SerfsTer3
NR_028383.1:n.74_93del
NM_012459.3:c.-2_18del
NR_028383.2:n.32_51del
NR_160400.1:n.32_51del
NM_012459.4:c.-2_18del