Canonical Allele Identifier: CA643063404

Gene: TIMM8A

Linked Data

• dbSNP Id: rs1403615997
• gnomAD v2: X-100603901-A-AGCCTTGC
• gnomAD v3: X-101348913-A-AGCCTTGC
• gnomAD v4: X-101348913-A-AGCCTTGC
• MyVariant Identifiers: chrX:g.100603901_100603902insGCCTTGC (hg19) ; chrX:g.101348913_101348914insGCCTTGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348920_101348926dup , CM000685.2:g.101348920_101348926dup	GRCh38
NC_000023.10:g.100603908_100603914dup , CM000685.1:g.100603908_100603914dup	GRCh37
NC_000023.9:g.100490564_100490570dup	NCBI36
NG_009616.1:g.42305_42311dup , LRG_128:g.42305_42311dup
NG_011734.1:g.5050_5056dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.3:c.-256_-250dup	ENSP00000361993.3:n.-256_-250dup
NM_004085.3:c.-256_-250dup	NP_004076.1:n.-256_-250dup