Canonical Allele Identifier: CA2321169275
Gene: TIMM44 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7934065_7934066delinsGC , CM000681.2:g.7934065_7934066delinsGC GRCh38
NC_000019.9:g.7998950_7998951delinsGC , CM000681.1:g.7998950_7998951delinsGC GRCh37
NC_000019.8:g.7904950_7904951delinsGC NCBI36
NG_051180.1:g.14758_14759delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270538.8:c.543+23_543+24delinsGC MANE Select ENSP00000270538.2:n.543+23_543+24delinsGC
ENST00000270538.7:c.543+23_543+24delinsGC ENSP00000270538.2:n.543+23_543+24delinsGC
ENST00000595831.5:c.530+23_530+24delinsGC
ENST00000595876.5:c.*231+23_*231+24delinsGC ENSP00000471596.1:n.*231+23_*231+24delinsGC
ENST00000597926.1:c.447+23_447+24delinsGC ENSP00000469389.1:n.447+23_447+24delinsGC
ENST00000600748.5:n.528+23_528+24delinsGC
NM_006351.3:c.543+23_543+24delinsGC NP_006342.2:n.543+23_543+24delinsGC
NM_006351.4:c.543+23_543+24delinsGC MANE Select NP_006342.2:n.543+23_543+24delinsGC