Canonical Allele Identifier: CA2586968825

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191472_26191484del , CM000664.2:g.26191472_26191484del	GRCh38
NC_000002.11:g.26414341_26414353del , CM000664.1:g.26414341_26414353del	GRCh37
NC_000002.10:g.26267845_26267857del	NCBI36
NG_007121.1:g.58144_58156del
NG_007121.2:g.58145_58157del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2146+6_2146+18del (HADHA)
ENST00000492433.2:c.2152_2164del (HADHA)	ENSP00000438039.2:p.Ser718GlufsTer6
ENST00000643057.1:c.*2043_*2055del (HADHA)	ENSP00000493761.1:n.*2043_*2055del
ENST00000643063.1:c.*1192+6_*1192+18del (HADHA)
ENST00000643233.1:c.*2037+6_*2037+18del (HADHA)
ENST00000644428.1:c.*770+6_*770+18del (HADHA)
ENST00000645274.1:c.2041+6_2041+18del (HADHA)
ENST00000646031.1:c.1505+6_1505+18del (HADHA)
ENST00000646483.1:c.2012+6_2012+18del (HADHA)
ENST00000380649.7:c.2146+6_2146+18del (HADHA)
ENST00000492433.1:c.610_622del (HADHA)	ENSP00000438039.1:p.Ser204GlufsTer6
NM_000182.4:c.2146+6_2146+18del (HADHA)
XM_011532567.1:c.1683+4157_1683+4169del (GAREM2)	XP_011530869.1:n.1683+4157_1683+4169del
XM_011532567.3:c.1683+4157_1683+4169del (GAREM2)	XP_011530869.1:n.1683+4157_1683+4169del
NM_000182.5:c.2146+6_2146+18del (HADHA)