Canonical Allele Identifier: CA2658210468

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26192212-AAAGTATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192215_26192221del , CM000664.2:g.26192215_26192221del	GRCh38
NC_000002.11:g.26415084_26415090del , CM000664.1:g.26415084_26415090del	GRCh37
NC_000002.10:g.26268588_26268594del	NCBI36
NG_007121.1:g.57402_57408del
NG_007121.2:g.57403_57409del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2000+91_2000+97del (HADHA) MANE Select	ENSP00000370023.3:n.2000+91_2000+97del
ENST00000492433.2:c.2000+91_2000+97del (HADHA)	ENSP00000438039.2:n.2000+91_2000+97del
ENST00000643057.1:c.*1891+91_*1891+97del (HADHA)	ENSP00000493761.1:n.*1891+91_*1891+97del
ENST00000643063.1:c.*1046+91_*1046+97del (HADHA)	ENSP00000495353.1:n.*1046+91_*1046+97del
ENST00000643233.1:c.*1891+91_*1891+97del (HADHA)	ENSP00000493880.1:n.*1891+91_*1891+97del
ENST00000644428.1:c.*624+91_*624+97del (HADHA)	ENSP00000495560.1:n.*624+91_*624+97del
ENST00000645274.1:c.1895+91_1895+97del (HADHA)	ENSP00000493996.1:n.1895+91_1895+97del
ENST00000646031.1:c.1359+91_1359+97del (HADHA)
ENST00000646483.1:c.1866+91_1866+97del (HADHA)	ENSP00000496185.1:n.1866+91_1866+97del
ENST00000380649.7:c.2000+91_2000+97del (HADHA)	ENSP00000370023.3:n.2000+91_2000+97del
ENST00000492433.1:c.458+91_458+97del (HADHA)	ENSP00000438039.1:n.458+91_458+97del
NM_000182.4:c.2000+91_2000+97del (HADHA)	NP_000173.2:n.2000+91_2000+97del
XM_011532567.1:c.1683+4900_1683+4906del (GAREM2)	XP_011530869.1:n.1683+4900_1683+4906del
XM_011532567.3:c.1683+4900_1683+4906del (GAREM2)	XP_011530869.1:n.1683+4900_1683+4906del
NM_000182.5:c.2000+91_2000+97del (HADHA) MANE Select	NP_000173.2:n.2000+91_2000+97del