Canonical Allele Identifier: CA2658215013

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26201036-AAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26201038_26201039del , CM000664.2:g.26201038_26201039del	GRCh38
NC_000002.11:g.26423907_26423908del , CM000664.1:g.26423907_26423908del	GRCh37
NC_000002.10:g.26277411_26277412del	NCBI36
NG_007121.1:g.48583_48584del
NG_007121.2:g.48584_48585del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1392+111_1392+112del (HADHA) MANE Select	ENSP00000370023.3:n.1392+111_1392+112del
ENST00000492433.2:c.1392+111_1392+112del (HADHA)	ENSP00000438039.2:n.1392+111_1392+112del
ENST00000643057.1:c.*1283+111_*1283+112del (HADHA)	ENSP00000493761.1:n.*1283+111_*1283+112del
ENST00000643063.1:c.*438+111_*438+112del (HADHA)	ENSP00000495353.1:n.*438+111_*438+112del
ENST00000643233.1:c.*1283+111_*1283+112del (HADHA)	ENSP00000493880.1:n.*1283+111_*1283+112del
ENST00000644428.1:c.1392+111_1392+112del (HADHA)	ENSP00000495560.1:n.1392+111_1392+112del
ENST00000645274.1:c.1287+111_1287+112del (HADHA)	ENSP00000493996.1:n.1287+111_1287+112del
ENST00000646031.1:c.751+111_751+112del (HADHA)
ENST00000646483.1:c.1258+111_1258+112del (HADHA)	ENSP00000496185.1:n.1258+111_1258+112del
ENST00000380649.7:c.1392+111_1392+112del (HADHA)	ENSP00000370023.3:n.1392+111_1392+112del
NM_000182.4:c.1392+111_1392+112del (HADHA)	NP_000173.2:n.1392+111_1392+112del
XM_011532567.1:c.1684-1195_1684-1194del (GAREM2)	XP_011530869.1:n.1684-1195_1684-1194del
XM_011532567.3:c.1684-1195_1684-1194del (GAREM2)	XP_011530869.1:n.1684-1195_1684-1194del
NM_000182.5:c.1392+111_1392+112del (HADHA) MANE Select	NP_000173.2:n.1392+111_1392+112del