Canonical Allele Identifier: CA2658215179

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26201319-ATCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26201320_26201322del , CM000664.2:g.26201320_26201322del	GRCh38
NC_000002.11:g.26424189_26424191del , CM000664.1:g.26424189_26424191del	GRCh37
NC_000002.10:g.26277693_26277695del	NCBI36
NG_007121.1:g.48299_48301del
NG_007121.2:g.48300_48302del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1221-2_1221del (HADHA)
ENST00000492433.2:c.1221-2_1221del (HADHA)
ENST00000643057.1:c.*1112-2_*1112del (HADHA)
ENST00000643063.1:c.*267-2_*267del (HADHA)
ENST00000643233.1:c.*1112-2_*1112del (HADHA)
ENST00000644428.1:c.1221-2_1221del (HADHA)
ENST00000645274.1:c.1116-2_1116del (HADHA)
ENST00000646031.1:c.580-2_580del (HADHA)
ENST00000646483.1:c.1087-2_1087del (HADHA)
ENST00000380649.7:c.1221-2_1221del (HADHA)
NM_000182.4:c.1221-2_1221del (HADHA)
XM_011532567.1:c.1684-913_1684-911del (GAREM2)	XP_011530869.1:n.1684-913_1684-911del
XM_011532567.3:c.1684-913_1684-911del (GAREM2)	XP_011530869.1:n.1684-913_1684-911del
NM_000182.5:c.1221-2_1221del (HADHA)