Canonical Allele Identifier: CA1239701269

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192375_26192379delinsCCTCT , CM000664.2:g.26192375_26192379delinsCCTCT	GRCh38
NC_000002.11:g.26415244_26415248delinsCCTCT , CM000664.1:g.26415244_26415248delinsCCTCT	GRCh37
NC_000002.10:g.26268748_26268752delinsCCTCT	NCBI36
NG_007121.1:g.57242_57246delinsAGAGG
NG_007121.2:g.57243_57247delinsAGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1931_1935delinsAGAGG (HADHA) MANE Select	ENSP00000370023.3:p.Lys644=
ENST00000492433.2:c.1931_1935delinsAGAGG (HADHA)	ENSP00000438039.2:p.Lys644=
ENST00000643057.1:c.*1822_*1826delinsAGAGG (HADHA)	ENSP00000493761.1:n.*1822_*1826delinsAGAGG
ENST00000643063.1:c.*977_*981delinsAGAGG (HADHA)	ENSP00000495353.1:n.*977_*981delinsAGAGG
ENST00000643233.1:c.*1822_*1826delinsAGAGG (HADHA)	ENSP00000493880.1:n.*1822_*1826delinsAGAGG
ENST00000644428.1:c.*555_*559delinsAGAGG (HADHA)	ENSP00000495560.1:n.*555_*559delinsAGAGG
ENST00000645274.1:c.1826_1830delinsAGAGG (HADHA)	ENSP00000493996.1:p.Lys609=
ENST00000646031.1:c.1290_1294delinsAGAGG (HADHA)
ENST00000646483.1:c.1797_1801delinsAGAGG (HADHA)	ENSP00000496185.1:n.1797_1801delinsAGAGG
ENST00000380649.7:c.1931_1935delinsAGAGG (HADHA)	ENSP00000370023.3:p.Lys644=
ENST00000492433.1:c.389_393delinsAGAGG (HADHA)	ENSP00000438039.1:p.Lys130=
NM_000182.4:c.1931_1935delinsAGAGG (HADHA)	NP_000173.2:p.Lys644=
XM_011532567.1:c.1683+5060_1683+5064delinsCCTCT (GAREM2)	XP_011530869.1:n.1683+5060_1683+5064delinsCCTCT
XM_011532567.3:c.1683+5060_1683+5064delinsCCTCT (GAREM2)	XP_011530869.1:n.1683+5060_1683+5064delinsCCTCT
NM_000182.5:c.1931_1935delinsAGAGG (HADHA) MANE Select	NP_000173.2:p.Lys644=