Canonical Allele Identifier: CA916495628

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1558315436

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26195096del , CM000664.2:g.26195096del	GRCh38
NC_000002.11:g.26417965del , CM000664.1:g.26417965del	GRCh37
NC_000002.10:g.26271469del	NCBI36
NG_007121.1:g.54526del
NG_007121.2:g.54527del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1617del (HADHA) MANE Select	ENSP00000370023.3:p.Lys540ArgfsTer15
ENST00000492433.2:c.1617del (HADHA)	ENSP00000438039.2:p.Lys540ArgfsTer15
ENST00000643057.1:c.*1508del (HADHA)	ENSP00000493761.1:n.*1508del
ENST00000643063.1:c.*663del (HADHA)	ENSP00000495353.1:n.*663del
ENST00000643233.1:c.*1508del (HADHA)	ENSP00000493880.1:n.*1508del
ENST00000644428.1:c.*241del (HADHA)	ENSP00000495560.1:n.*241del
ENST00000645274.1:c.1512del (HADHA)	ENSP00000493996.1:p.Lys505ArgfsTer15
ENST00000646031.1:c.976del (HADHA)
ENST00000646483.1:c.1483del (HADHA)	ENSP00000496185.1:n.1483del
ENST00000380649.7:c.1617del (HADHA)	ENSP00000370023.3:p.Lys540ArgfsTer15
ENST00000492433.1:c.75del (HADHA)	ENSP00000438039.1:p.Lys26ArgfsTer15
NM_000182.4:c.1617del (HADHA)	NP_000173.2:p.Lys540ArgfsTer15
XM_011532567.1:c.1684-7137del (GAREM2)	XP_011530869.1:n.1684-7137del
XM_011532567.3:c.1684-7137del (GAREM2)	XP_011530869.1:n.1684-7137del
NM_000182.5:c.1617del (HADHA) MANE Select	NP_000173.2:p.Lys540ArgfsTer15