Canonical Allele Identifier: CA1239702434

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26194880_26194882delinsTGG , CM000664.2:g.26194880_26194882delinsTGG	GRCh38
NC_000002.11:g.26417749_26417751delinsTGG , CM000664.1:g.26417749_26417751delinsTGG	GRCh37
NC_000002.10:g.26271253_26271255delinsTGG	NCBI36
NG_007121.1:g.54739_54741delinsCCA
NG_007121.2:g.54740_54742delinsCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1620+210_1620+212delinsCCA (HADHA) MANE Select	ENSP00000370023.3:n.1620+210_1620+212delinsCCA
ENST00000492433.2:c.1620+210_1620+212delinsCCA (HADHA)	ENSP00000438039.2:n.1620+210_1620+212delinsCCA
ENST00000643057.1:c.*1511+210_*1511+212delinsCCA (HADHA)	ENSP00000493761.1:n.*1511+210_*1511+212delinsCCA
ENST00000643063.1:c.*666+210_*666+212delinsCCA (HADHA)	ENSP00000495353.1:n.*666+210_*666+212delinsCCA
ENST00000643233.1:c.*1511+210_*1511+212delinsCCA (HADHA)	ENSP00000493880.1:n.*1511+210_*1511+212delinsCCA
ENST00000644428.1:c.*244+210_*244+212delinsCCA (HADHA)	ENSP00000495560.1:n.*244+210_*244+212delinsCCA
ENST00000645274.1:c.1515+210_1515+212delinsCCA (HADHA)	ENSP00000493996.1:n.1515+210_1515+212delinsCCA
ENST00000646031.1:c.979+210_979+212delinsCCA (HADHA)
ENST00000646483.1:c.1486+210_1486+212delinsCCA (HADHA)	ENSP00000496185.1:n.1486+210_1486+212delinsCCA
ENST00000380649.7:c.1620+210_1620+212delinsCCA (HADHA)	ENSP00000370023.3:n.1620+210_1620+212delinsCCA
ENST00000492433.1:c.78+210_78+212delinsCCA (HADHA)	ENSP00000438039.1:n.78+210_78+212delinsCCA
NM_000182.4:c.1620+210_1620+212delinsCCA (HADHA)	NP_000173.2:n.1620+210_1620+212delinsCCA
XM_011532567.1:c.1684-7353_1684-7351delinsTGG (GAREM2)	XP_011530869.1:n.1684-7353_1684-7351delinsTGG
XM_011532567.3:c.1684-7353_1684-7351delinsTGG (GAREM2)	XP_011530869.1:n.1684-7353_1684-7351delinsTGG
NM_000182.5:c.1620+210_1620+212delinsCCA (HADHA) MANE Select	NP_000173.2:n.1620+210_1620+212delinsCCA