Canonical Allele Identifier: CA767265522

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1180635411
• MyVariant Identifiers: chr2:g.26417881_26417882del (hg19) ; chr2:g.26195012_26195013del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26195013_26195014del , CM000664.2:g.26195013_26195014del	GRCh38
NC_000002.11:g.26417882_26417883del , CM000664.1:g.26417882_26417883del	GRCh37
NC_000002.10:g.26271386_26271387del	NCBI36
NG_007121.1:g.54608_54609del
NG_007121.2:g.54609_54610del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1620+79_1620+80del (HADHA) MANE Select	ENSP00000370023.3:n.1620+79_1620+80del
ENST00000492433.2:c.1620+79_1620+80del (HADHA)	ENSP00000438039.2:n.1620+79_1620+80del
ENST00000643057.1:c.*1511+79_*1511+80del (HADHA)	ENSP00000493761.1:n.*1511+79_*1511+80del
ENST00000643063.1:c.*666+79_*666+80del (HADHA)	ENSP00000495353.1:n.*666+79_*666+80del
ENST00000643233.1:c.*1511+79_*1511+80del (HADHA)	ENSP00000493880.1:n.*1511+79_*1511+80del
ENST00000644428.1:c.*244+79_*244+80del (HADHA)	ENSP00000495560.1:n.*244+79_*244+80del
ENST00000645274.1:c.1515+79_1515+80del (HADHA)	ENSP00000493996.1:n.1515+79_1515+80del
ENST00000646031.1:c.979+79_979+80del (HADHA)
ENST00000646483.1:c.1486+79_1486+80del (HADHA)	ENSP00000496185.1:n.1486+79_1486+80del
ENST00000380649.7:c.1620+79_1620+80del (HADHA)	ENSP00000370023.3:n.1620+79_1620+80del
ENST00000492433.1:c.78+79_78+80del (HADHA)	ENSP00000438039.1:n.78+79_78+80del
NM_000182.4:c.1620+79_1620+80del (HADHA)	NP_000173.2:n.1620+79_1620+80del
XM_011532567.1:c.1684-7220_1684-7219del (GAREM2)	XP_011530869.1:n.1684-7220_1684-7219del
XM_011532567.3:c.1684-7220_1684-7219del (GAREM2)	XP_011530869.1:n.1684-7220_1684-7219del
NM_000182.5:c.1620+79_1620+80del (HADHA) MANE Select	NP_000173.2:n.1620+79_1620+80del