Canonical Allele Identifier: CA1239705006

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26200760_26200764delinsTCTCG , CM000664.2:g.26200760_26200764delinsTCTCG	GRCh38
NC_000002.11:g.26423629_26423633delinsTCTCG , CM000664.1:g.26423629_26423633delinsTCTCG	GRCh37
NC_000002.10:g.26277133_26277137delinsTCTCG	NCBI36
NG_007121.1:g.48857_48861delinsCGAGA
NG_007121.2:g.48858_48862delinsCGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1392+385_1392+389delinsCGAGA (HADHA) MANE Select	ENSP00000370023.3:n.1392+385_1392+389delinsCGAGA
ENST00000492433.2:c.1392+385_1392+389delinsCGAGA (HADHA)	ENSP00000438039.2:n.1392+385_1392+389delinsCGAGA
ENST00000643057.1:c.*1283+385_*1283+389delinsCGAGA (HADHA)	ENSP00000493761.1:n.*1283+385_*1283+389delinsCGAGA
ENST00000643063.1:c.*438+385_*438+389delinsCGAGA (HADHA)	ENSP00000495353.1:n.*438+385_*438+389delinsCGAGA
ENST00000643233.1:c.*1283+385_*1283+389delinsCGAGA (HADHA)	ENSP00000493880.1:n.*1283+385_*1283+389delinsCGAGA
ENST00000644428.1:c.1392+385_1392+389delinsCGAGA (HADHA)	ENSP00000495560.1:n.1392+385_1392+389delinsCGAGA
ENST00000645274.1:c.1287+385_1287+389delinsCGAGA (HADHA)	ENSP00000493996.1:n.1287+385_1287+389delinsCGAGA
ENST00000646031.1:c.751+385_751+389delinsCGAGA (HADHA)
ENST00000646483.1:c.1258+385_1258+389delinsCGAGA (HADHA)	ENSP00000496185.1:n.1258+385_1258+389delinsCGAGA
ENST00000380649.7:c.1392+385_1392+389delinsCGAGA (HADHA)	ENSP00000370023.3:n.1392+385_1392+389delinsCGAGA
NM_000182.4:c.1392+385_1392+389delinsCGAGA (HADHA)	NP_000173.2:n.1392+385_1392+389delinsCGAGA
XM_011532567.1:c.1684-1473_1684-1469delinsTCTCG (GAREM2)	XP_011530869.1:n.1684-1473_1684-1469delinsTCTCG
XM_011532567.3:c.1684-1473_1684-1469delinsTCTCG (GAREM2)	XP_011530869.1:n.1684-1473_1684-1469delinsTCTCG
NM_000182.5:c.1392+385_1392+389delinsCGAGA (HADHA) MANE Select	NP_000173.2:n.1392+385_1392+389delinsCGAGA