Canonical Allele Identifier: CA2615989121

Gene: TIMM8B

Linked Data

• gnomAD v4: 11-112086715-CTCCGCCAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112086717_112086724del , CM000673.2:g.112086717_112086724del	GRCh38
NC_000011.9:g.111957441_111957448del , CM000673.1:g.111957441_111957448del	GRCh37
NC_000011.8:g.111462651_111462658del	NCBI36
NG_012337.2:g.4871_4878del
NG_033145.1:g.5076_5083del
NG_012337.3:g.4871_4878del

Transcript Alleles

HGVS	Amino-acid change
ENST00000504148.3:c.1_8del MANE Select	ENSP00000422122.2:p.Met1AlafsTer6
ENST00000504148.2:c.1_8del	ENSP00000422122.2:p.Met1AlafsTer6
ENST00000509359.6:c.1_8del	ENSP00000421964.2:p.Met1AlafsTer6
ENST00000541231.1:c.46_53del	ENSP00000438455.1:p.Met16AlafsTer6
NM_012459.2:c.46_53del	NP_036591.2:p.Met16AlafsTer6
NR_028383.1:n.76_83del
NM_012459.3:c.1_8del	NP_036591.3:p.Met1AlafsTer6
NR_028383.2:n.34_41del
NR_160400.1:n.34_41del
NM_012459.4:c.1_8del MANE Select	NP_036591.3:p.Met1AlafsTer6