Canonical Allele Identifier: CA2588035133

Gene: TIMM44

Linked Data

• gnomAD v4: 19-7934007-C-CGAGGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7934009_7934014dup , CM000681.2:g.7934009_7934014dup	GRCh38
NC_000019.9:g.7998894_7998899dup , CM000681.1:g.7998894_7998899dup	GRCh37
NC_000019.8:g.7904894_7904899dup	NCBI36
NG_051180.1:g.14811_14816dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270538.8:c.544-10_544-5dup MANE Select	ENSP00000270538.2:n.544-10_544-5dup
ENST00000270538.7:c.544-10_544-5dup	ENSP00000270538.2:n.544-10_544-5dup
ENST00000595831.5:c.531-10_531-5dup
ENST00000595876.5:c.*232-10_*232-5dup	ENSP00000471596.1:n.*232-10_*232-5dup
ENST00000597926.1:c.448-10_448-5dup	ENSP00000469389.1:n.448-10_448-5dup
ENST00000600748.5:n.529-10_529-5dup
NM_006351.3:c.544-10_544-5dup	NP_006342.2:n.544-10_544-5dup
NM_006351.4:c.544-10_544-5dup MANE Select	NP_006342.2:n.544-10_544-5dup