Canonical Allele Identifier: CA767265624

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1488911864
• MyVariant Identifiers: chr2:g.26417975del (hg19) ; chr2:g.26195106del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26195106del , CM000664.2:g.26195106del	GRCh38
NC_000002.11:g.26417975del , CM000664.1:g.26417975del	GRCh37
NC_000002.10:g.26271479del	NCBI36
NG_007121.1:g.54515del
NG_007121.2:g.54516del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1606del (HADHA) MANE Select	ENSP00000370023.3:p.Ile536SerfsTer19
ENST00000492433.2:c.1606del (HADHA)	ENSP00000438039.2:p.Ile536SerfsTer19
ENST00000643057.1:c.*1497del (HADHA)	ENSP00000493761.1:n.*1497del
ENST00000643063.1:c.*652del (HADHA)	ENSP00000495353.1:n.*652del
ENST00000643233.1:c.*1497del (HADHA)	ENSP00000493880.1:n.*1497del
ENST00000644428.1:c.*230del (HADHA)	ENSP00000495560.1:n.*230del
ENST00000645274.1:c.1501del (HADHA)	ENSP00000493996.1:p.Ile501SerfsTer19
ENST00000646031.1:c.965del (HADHA)
ENST00000646483.1:c.1472del (HADHA)	ENSP00000496185.1:n.1472del
ENST00000380649.7:c.1606del (HADHA)	ENSP00000370023.3:p.Ile536SerfsTer19
ENST00000492433.1:c.64del (HADHA)	ENSP00000438039.1:p.Ile22SerfsTer19
NM_000182.4:c.1606del (HADHA)	NP_000173.2:p.Ile536SerfsTer19
XM_011532567.1:c.1684-7127del (GAREM2)	XP_011530869.1:n.1684-7127del
XM_011532567.3:c.1684-7127del (GAREM2)	XP_011530869.1:n.1684-7127del
NM_000182.5:c.1606del (HADHA) MANE Select	NP_000173.2:p.Ile536SerfsTer19