Canonical Allele Identifier: CA1559668

Gene: HADHA

Linked Data

• dbSNP Id: rs768757660
• ExAC: 2:26427113 TTCAG / T
• gnomAD v2: 2-26427113-TTCAG-T
• gnomAD v4: 2-26204244-TTCAG-T
• MyVariant Identifiers: chr2:g.26427114_26427117del (hg19) ; chr2:g.26204245_26204248del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204248_26204251del , CM000664.2:g.26204248_26204251del	GRCh38
NC_000002.11:g.26427117_26427120del , CM000664.1:g.26427117_26427120del	GRCh37
NC_000002.10:g.26280621_26280624del	NCBI36
NG_007121.1:g.45373_45376del
NG_007121.2:g.45374_45377del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1086-52_1086-49del MANE Select	ENSP00000370023.3:n.1086-52_1086-49del
ENST00000492433.2:c.1086-52_1086-49del	ENSP00000438039.2:n.1086-52_1086-49del
ENST00000643057.1:c.*977-52_*977-49del	ENSP00000493761.1:n.*977-52_*977-49del
ENST00000643063.1:c.*132-52_*132-49del	ENSP00000495353.1:n.*132-52_*132-49del
ENST00000643233.1:c.*977-52_*977-49del	ENSP00000493880.1:n.*977-52_*977-49del
ENST00000644428.1:c.1086-52_1086-49del	ENSP00000495560.1:n.1086-52_1086-49del
ENST00000645274.1:c.981-52_981-49del	ENSP00000493996.1:n.981-52_981-49del
ENST00000646031.1:c.445-52_445-49del
ENST00000646483.1:c.952-52_952-49del	ENSP00000496185.1:n.952-52_952-49del
ENST00000380649.7:c.1086-52_1086-49del	ENSP00000370023.3:n.1086-52_1086-49del
NM_000182.4:c.1086-52_1086-49del	NP_000173.2:n.1086-52_1086-49del
NM_000182.5:c.1086-52_1086-49del MANE Select	NP_000173.2:n.1086-52_1086-49del