Canonical Allele Identifier: CA643063320

Gene: TIMM8A

Linked Data

• gnomAD v2: X-100603701-T-TCTTGACTTTTTACTATATATAAAG
• MyVariant Identifiers: chrX:g.100603701_100603702insCTTGACTTTTTACTATATATAAAG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348713_101348714insCTTGACTTTTTACTATATATAAAG , CM000685.2:g.101348713_101348714insCTTGACTTTTTACTATATATAAAG	GRCh38
NC_000023.10:g.100603701_100603702insCTTGACTTTTTACTATATATAAAG , CM000685.1:g.100603701_100603702insCTTGACTTTTTACTATATATAAAG	GRCh37
NC_000023.9:g.100490357_100490358insCTTGACTTTTTACTATATATAAAG	NCBI36
NG_009616.1:g.42511_42512insCTTTATATATAGTAAAAAGTCAAG , LRG_128:g.42511_42512insCTTTATATATAGTAAAAAGTCAAG
NG_011734.1:g.5256_5257insCTTTATATATAGTAAAAAGTCAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.-50_-49insCTTTATATATAGTAAAAAGTCAAG MANE Select	ENSP00000361993.3:n.-50_-49insCTTTATATATAGTAAAAAGTCAAG
ENST00000644112.2:c.-50_-49insCTTTATATATAGTAAAAAGTCAAG	ENSP00000494385.1:n.-50_-49insCTTTATATATAGTAAAAAGTCAAG
ENST00000372902.3:c.-50_-49insCTTTATATATAGTAAAAAGTCAAG	ENSP00000361993.3:n.-50_-49insCTTTATATATAGTAAAAAGTCAAG
ENST00000480575.1:n.36_37insCTTTATATATAGTAAAAAGTCAAG
NM_001145951.1:c.-50_-49insCTTTATATATAGTAAAAAGTCAAG	NP_001139423.1:n.-50_-49insCTTTATATATAGTAAAAAGTCAAG
NM_004085.3:c.-50_-49insCTTTATATATAGTAAAAAGTCAAG	NP_004076.1:n.-50_-49insCTTTATATATAGTAAAAAGTCAAG
NM_004085.4:c.-50_-49insCTTTATATATAGTAAAAAGTCAAG MANE Select	NP_004076.1:n.-50_-49insCTTTATATATAGTAAAAAGTCAAG
NM_001145951.2:c.-50_-49insCTTTATATATAGTAAAAAGTCAAG	NP_001139423.1:n.-50_-49insCTTTATATATAGTAAAAAGTCAAG