Canonical Allele Identifier: CA2580066164

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 1723963
• ClinVar RCV Id: RCV002306518

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192365_26192366del , CM000664.2:g.26192365_26192366del	GRCh38
NC_000002.11:g.26415234_26415235del , CM000664.1:g.26415234_26415235del	GRCh37
NC_000002.10:g.26268738_26268739del	NCBI36
NG_007121.1:g.57255_57256del
NG_007121.2:g.57256_57257del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1944_1945del (HADHA) MANE Select	ENSP00000370023.3:p.Asn649PhefsTer2
ENST00000492433.2:c.1944_1945del (HADHA)	ENSP00000438039.2:p.Asn649PhefsTer2
ENST00000643057.1:c.*1835_*1836del (HADHA)	ENSP00000493761.1:n.*1835_*1836del
ENST00000643063.1:c.*990_*991del (HADHA)	ENSP00000495353.1:n.*990_*991del
ENST00000643233.1:c.*1835_*1836del (HADHA)	ENSP00000493880.1:n.*1835_*1836del
ENST00000644428.1:c.*568_*569del (HADHA)	ENSP00000495560.1:n.*568_*569del
ENST00000645274.1:c.1839_1840del (HADHA)	ENSP00000493996.1:p.Asn614PhefsTer2
ENST00000646031.1:c.1303_1304del (HADHA)
ENST00000646483.1:c.1810_1811del (HADHA)	ENSP00000496185.1:n.1810_1811del
ENST00000380649.7:c.1944_1945del (HADHA)	ENSP00000370023.3:p.Asn649PhefsTer2
ENST00000492433.1:c.402_403del (HADHA)	ENSP00000438039.1:p.Asn135PhefsTer2
NM_000182.4:c.1944_1945del (HADHA)	NP_000173.2:p.Asn649PhefsTer2
XM_011532567.1:c.1683+5050_1683+5051del (GAREM2)	XP_011530869.1:n.1683+5050_1683+5051del
XM_011532567.3:c.1683+5050_1683+5051del (GAREM2)	XP_011530869.1:n.1683+5050_1683+5051del
NM_000182.5:c.1944_1945del (HADHA) MANE Select	NP_000173.2:p.Asn649PhefsTer2