Canonical Allele Identifier: CA10612962
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 335369
ClinVar RCV Id: RCV000334999 RCV001824739
dbSNP Id: rs886055861
gnomAD v3: 2-26190873-GAC-G
gnomAD v4: 2-26190873-GAC-G
MyVariant Identifiers: chr2:g.26413743_26413744del (hg19) chr2:g.26190874_26190875del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26190877_26190878del , CM000664.2:g.26190877_26190878del GRCh38
NC_000002.11:g.26413746_26413747del , CM000664.1:g.26413746_26413747del GRCh37
NC_000002.10:g.26267250_26267251del NCBI36
NG_007121.1:g.58746_58747del
NG_007121.2:g.58747_58748del

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.*375_*376del (HADHA) MANE Select ENSP00000370023.3:n.*375_*376del
ENST00000492433.2:c.*375_*376del (HADHA) ENSP00000438039.2:n.*375_*376del
ENST00000643057.1:c.*2645_*2646del (HADHA) ENSP00000493761.1:n.*2645_*2646del
ENST00000644428.1:c.*1291_*1292del (HADHA) ENSP00000495560.1:n.*1291_*1292del
ENST00000380649.7:c.*375_*376del (HADHA) ENSP00000370023.3:n.*375_*376del
NM_000182.4:c.*375_*376del (HADHA) NP_000173.2:n.*375_*376del
XM_011532567.1:c.1683+3562_1683+3563del (GAREM2) XP_011530869.1:n.1683+3562_1683+3563del
XM_011532567.3:c.1683+3562_1683+3563del (GAREM2) XP_011530869.1:n.1683+3562_1683+3563del
NM_000182.5:c.*375_*376del (HADHA) MANE Select NP_000173.2:n.*375_*376del
Search 100 bp 5'
Search 100 bp 3'