Canonical Allele Identifier: CA2588036413
Gene: TIMM44 HGNC NCBI

Linked Data

gnomAD v4: 19-7943507-G-GCAAGGGTCGCGAAGGC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7943516_7943531dup , CM000681.2:g.7943516_7943531dup GRCh38
NC_000019.9:g.8008401_8008416dup , CM000681.1:g.8008401_8008416dup GRCh37
NC_000019.8:g.7914401_7914416dup NCBI36
NG_051180.1:g.5301_5316dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000270538.8:c.45+84_45+99dup MANE Select ENSP00000270538.2:n.45+84_45+99dup
ENST00000270538.7:c.45+84_45+99dup ENSP00000270538.2:n.45+84_45+99dup
ENST00000595831.5:c.29+84_29+99dup
ENST00000595876.5:c.45+84_45+99dup ENSP00000471596.1:n.45+84_45+99dup
ENST00000597926.1:c.45+84_45+99dup ENSP00000469389.1:n.45+84_45+99dup
ENST00000600000.1:n.60+84_60+99dup
ENST00000600748.5:n.30+84_30+99dup
NM_006351.3:c.45+84_45+99dup NP_006342.2:n.45+84_45+99dup
NM_006351.4:c.45+84_45+99dup MANE Select NP_006342.2:n.45+84_45+99dup
Search 100 bp 5'
Search 100 bp 3'