Canonical Allele Identifier: CA2822685003
Gene: TIMM8A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348471_101348472insAGT , CM000685.2:g.101348471_101348472insAGT GRCh38
NC_000023.10:g.100603459_100603460insAGT , CM000685.1:g.100603459_100603460insAGT GRCh37
NC_000023.9:g.100490115_100490116insAGT NCBI36
NG_009616.1:g.42753_42754insACT , LRG_128:g.42753_42754insACT
NG_011734.1:g.5498_5499insACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.4:c.132+61_132+62insACT MANE Select ENSP00000361993.3:n.132+61_132+62insACT
ENST00000644112.2:c.132+61_132+62insACT ENSP00000494385.1:n.132+61_132+62insACT
ENST00000645279.1:c.132+61_132+62insACT ENSP00000494239.1:n.132+61_132+62insACT
ENST00000647480.1:n.104_105insACT
ENST00000372902.3:c.132+61_132+62insACT ENSP00000361993.3:n.132+61_132+62insACT
ENST00000480575.1:n.217+61_217+62insACT
NM_001145951.1:c.132+61_132+62insACT NP_001139423.1:n.132+61_132+62insACT
NM_004085.3:c.132+61_132+62insACT NP_004076.1:n.132+61_132+62insACT
NM_004085.4:c.132+61_132+62insACT MANE Select NP_004076.1:n.132+61_132+62insACT
NM_001145951.2:c.132+61_132+62insACT NP_001139423.1:n.132+61_132+62insACT