Canonical Allele Identifier: CA2822684988
Gene: TIMM8A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348457_101348458insCAAAAAGAGGATTAAAGAAG , CM000685.2:g.101348457_101348458insCAAAAAGAGGATTAAAGAAG GRCh38
NC_000023.10:g.100603445_100603446insCAAAAAGAGGATTAAAGAAG , CM000685.1:g.100603445_100603446insCAAAAAGAGGATTAAAGAAG GRCh37
NC_000023.9:g.100490101_100490102insCAAAAAGAGGATTAAAGAAG NCBI36
NG_009616.1:g.42768_42769insTTCTTTAATCCTCTTTTTGC , LRG_128:g.42768_42769insTTCTTTAATCCTCTTTTTGC
NG_011734.1:g.5513_5514insTTCTTTAATCCTCTTTTTGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.4:c.132+76_132+77insTTCTTTAATCCTCTTTTTGC MANE Select ENSP00000361993.3:n.132+76_132+77insTTCTTTAATCCTCTTTTTGC
ENST00000644112.2:c.133-56_133-55insTTCTTTAATCCTCTTTTTGC ENSP00000494385.1:n.133-56_133-55insTTCTTTAATCCTCTTTTTGC
ENST00000645279.1:c.133-56_133-55insTTCTTTAATCCTCTTTTTGC ENSP00000494239.1:n.133-56_133-55insTTCTTTAATCCTCTTTTTGC
ENST00000647480.1:n.119_120insTTCTTTAATCCTCTTTTTGC
ENST00000372902.3:c.132+76_132+77insTTCTTTAATCCTCTTTTTGC ENSP00000361993.3:n.132+76_132+77insTTCTTTAATCCTCTTTTTGC
ENST00000480575.1:n.218-56_218-55insTTCTTTAATCCTCTTTTTGC
NM_001145951.1:c.133-56_133-55insTTCTTTAATCCTCTTTTTGC NP_001139423.1:n.133-56_133-55insTTCTTTAATCCTCTTTTTGC
NM_004085.3:c.132+76_132+77insTTCTTTAATCCTCTTTTTGC NP_004076.1:n.132+76_132+77insTTCTTTAATCCTCTTTTTGC
NM_004085.4:c.132+76_132+77insTTCTTTAATCCTCTTTTTGC MANE Select NP_004076.1:n.132+76_132+77insTTCTTTAATCCTCTTTTTGC
NM_001145951.2:c.133-56_133-55insTTCTTTAATCCTCTTTTTGC NP_001139423.1:n.133-56_133-55insTTCTTTAATCCTCTTTTTGC