Canonical Allele Identifier: CA2822684989
Gene: TIMM8A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348456_101348457insACA , CM000685.2:g.101348456_101348457insACA GRCh38
NC_000023.10:g.100603444_100603445insACA , CM000685.1:g.100603444_100603445insACA GRCh37
NC_000023.9:g.100490100_100490101insACA NCBI36
NG_009616.1:g.42768_42769insTGT , LRG_128:g.42768_42769insTGT
NG_011734.1:g.5513_5514insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.4:c.132+76_132+77insTGT MANE Select ENSP00000361993.3:n.132+76_132+77insTGT
ENST00000644112.2:c.133-56_133-55insTGT ENSP00000494385.1:n.133-56_133-55insTGT
ENST00000645279.1:c.133-56_133-55insTGT ENSP00000494239.1:n.133-56_133-55insTGT
ENST00000647480.1:n.119_120insTGT
ENST00000372902.3:c.132+76_132+77insTGT ENSP00000361993.3:n.132+76_132+77insTGT
ENST00000480575.1:n.218-56_218-55insTGT
NM_001145951.1:c.133-56_133-55insTGT NP_001139423.1:n.133-56_133-55insTGT
NM_004085.3:c.132+76_132+77insTGT NP_004076.1:n.132+76_132+77insTGT
NM_004085.4:c.132+76_132+77insTGT MANE Select NP_004076.1:n.132+76_132+77insTGT
NM_001145951.2:c.133-56_133-55insTGT NP_001139423.1:n.133-56_133-55insTGT