Canonical Allele Identifier: CA2321169232
Gene: TIMM44 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7933999_7934000delinsAC , CM000681.2:g.7933999_7934000delinsAC GRCh38
NC_000019.9:g.7998884_7998885delinsAC , CM000681.1:g.7998884_7998885delinsAC GRCh37
NC_000019.8:g.7904884_7904885delinsAC NCBI36
NG_051180.1:g.14824_14825delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000270538.8:c.547_548delinsGT MANE Select ENSP00000270538.2:p.Val183=
ENST00000270538.7:c.547_548delinsGT ENSP00000270538.2:p.Val183=
ENST00000595831.5:c.534_535delinsGT
ENST00000595876.5:c.*235_*236delinsGT ENSP00000471596.1:n.*235_*236delinsGT
ENST00000597926.1:c.451_452delinsGT ENSP00000469389.1:p.Val151=
ENST00000600748.5:n.532_533delinsGT
NM_006351.3:c.547_548delinsGT NP_006342.2:p.Val183=
NM_006351.4:c.547_548delinsGT MANE Select NP_006342.2:p.Val183=