Canonical Allele Identifier: CA2822684961
Gene: TIMM8A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348442_101348456del , CM000685.2:g.101348442_101348456del GRCh38
NC_000023.10:g.100603430_100603444del , CM000685.1:g.100603430_100603444del GRCh37
NC_000023.9:g.100490086_100490100del NCBI36
NG_009616.1:g.42769_42783del , LRG_128:g.42769_42783del
NG_011734.1:g.5514_5528del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.4:c.132+77_132+91del MANE Select ENSP00000361993.3:n.132+77_132+91del
ENST00000644112.2:c.133-55_133-41del ENSP00000494385.1:n.133-55_133-41del
ENST00000645279.1:c.133-55_133-41del ENSP00000494239.1:n.133-55_133-41del
ENST00000647480.1:n.120_134del
ENST00000372902.3:c.132+77_132+91del ENSP00000361993.3:n.132+77_132+91del
ENST00000480575.1:n.218-55_218-41del
NM_001145951.1:c.133-55_133-41del NP_001139423.1:n.133-55_133-41del
NM_004085.3:c.132+77_132+91del NP_004076.1:n.132+77_132+91del
NM_004085.4:c.132+77_132+91del MANE Select NP_004076.1:n.132+77_132+91del
NM_001145951.2:c.133-55_133-41del NP_001139423.1:n.133-55_133-41del