Canonical Allele Identifier: CA2576696578

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192310_26192311del , CM000664.2:g.26192310_26192311del	GRCh38
NC_000002.11:g.26415179_26415180del , CM000664.1:g.26415179_26415180del	GRCh37
NC_000002.10:g.26268683_26268684del	NCBI36
NG_007121.1:g.57312_57313del
NG_007121.2:g.57313_57314del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2000+1_2000+2del (HADHA)
ENST00000492433.2:c.2000+1_2000+2del (HADHA)
ENST00000643057.1:c.*1891+1_*1891+2del (HADHA)
ENST00000643063.1:c.*1046+1_*1046+2del (HADHA)
ENST00000643233.1:c.*1891+1_*1891+2del (HADHA)
ENST00000644428.1:c.*624+1_*624+2del (HADHA)
ENST00000645274.1:c.1895+1_1895+2del (HADHA)
ENST00000646031.1:c.1359+1_1359+2del (HADHA)
ENST00000646483.1:c.1866+1_1866+2del (HADHA)
ENST00000380649.7:c.2000+1_2000+2del (HADHA)
ENST00000492433.1:c.458+1_458+2del (HADHA)
NM_000182.4:c.2000+1_2000+2del (HADHA)
XM_011532567.1:c.1683+4995_1683+4996del (GAREM2)	XP_011530869.1:n.1683+4995_1683+4996del
XM_011532567.3:c.1683+4995_1683+4996del (GAREM2)	XP_011530869.1:n.1683+4995_1683+4996del
NM_000182.5:c.2000+1_2000+2del (HADHA)