Canonical Allele Identifier: CA531391398

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1558313886
• gnomAD v2: 2-26415134-CAGAG-C
• gnomAD v4: 2-26192265-CAGAG-C
• MyVariant Identifiers: chr2:g.26415135_26415138del (hg19) ; chr2:g.26192266_26192269del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192267_26192270del , CM000664.2:g.26192267_26192270del	GRCh38
NC_000002.11:g.26415136_26415139del , CM000664.1:g.26415136_26415139del	GRCh37
NC_000002.10:g.26268640_26268643del	NCBI36
NG_007121.1:g.57352_57355del
NG_007121.2:g.57353_57356del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2000+41_2000+44del (HADHA) MANE Select	ENSP00000370023.3:n.2000+41_2000+44del
ENST00000492433.2:c.2000+41_2000+44del (HADHA)	ENSP00000438039.2:n.2000+41_2000+44del
ENST00000643057.1:c.*1891+41_*1891+44del (HADHA)	ENSP00000493761.1:n.*1891+41_*1891+44del
ENST00000643063.1:c.*1046+41_*1046+44del (HADHA)	ENSP00000495353.1:n.*1046+41_*1046+44del
ENST00000643233.1:c.*1891+41_*1891+44del (HADHA)	ENSP00000493880.1:n.*1891+41_*1891+44del
ENST00000644428.1:c.*624+41_*624+44del (HADHA)	ENSP00000495560.1:n.*624+41_*624+44del
ENST00000645274.1:c.1895+41_1895+44del (HADHA)	ENSP00000493996.1:n.1895+41_1895+44del
ENST00000646031.1:c.1359+41_1359+44del (HADHA)
ENST00000646483.1:c.1866+41_1866+44del (HADHA)	ENSP00000496185.1:n.1866+41_1866+44del
ENST00000380649.7:c.2000+41_2000+44del (HADHA)	ENSP00000370023.3:n.2000+41_2000+44del
ENST00000492433.1:c.458+41_458+44del (HADHA)	ENSP00000438039.1:n.458+41_458+44del
NM_000182.4:c.2000+41_2000+44del (HADHA)	NP_000173.2:n.2000+41_2000+44del
XM_011532567.1:c.1683+4952_1683+4955del (GAREM2)	XP_011530869.1:n.1683+4952_1683+4955del
XM_011532567.3:c.1683+4952_1683+4955del (GAREM2)	XP_011530869.1:n.1683+4952_1683+4955del
NM_000182.5:c.2000+41_2000+44del (HADHA) MANE Select	NP_000173.2:n.2000+41_2000+44del