Canonical Allele Identifier: CA631703086

Gene: TIMM44

Linked Data

• dbSNP Id: rs1431679644
• gnomAD v2: 19-7998917-T-TGGG
• gnomAD v3: 19-7934032-T-TGGG
• gnomAD v4: 19-7934032-T-TGGG
• MyVariant Identifiers: chr19:g.7998917_7998918insGGG (hg19) ; chr19:g.7934032_7934033insGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7934033_7934035dup , CM000681.2:g.7934033_7934035dup	GRCh38
NC_000019.9:g.7998918_7998920dup , CM000681.1:g.7998918_7998920dup	GRCh37
NC_000019.8:g.7904918_7904920dup	NCBI36
NG_051180.1:g.14789_14791dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270538.8:c.544-32_544-30dup MANE Select	ENSP00000270538.2:n.544-32_544-30dup
ENST00000270538.7:c.544-32_544-30dup	ENSP00000270538.2:n.544-32_544-30dup
ENST00000595831.5:c.531-32_531-30dup
ENST00000595876.5:c.*232-32_*232-30dup	ENSP00000471596.1:n.*232-32_*232-30dup
ENST00000597926.1:c.448-32_448-30dup	ENSP00000469389.1:n.448-32_448-30dup
ENST00000600748.5:n.529-32_529-30dup
NM_006351.3:c.544-32_544-30dup	NP_006342.2:n.544-32_544-30dup
NM_006351.4:c.544-32_544-30dup MANE Select	NP_006342.2:n.544-32_544-30dup