Canonical Allele Identifier: CA1946752776

Gene: ECHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133365854_133365855delinsGA , CM000672.2:g.133365854_133365855delinsGA	GRCh38
NC_000010.10:g.135179358_135179359delinsGA , CM000672.1:g.135179358_135179359delinsGA	GRCh37
NC_000010.9:g.135029348_135029349delinsGA	NCBI36
NG_042077.1:g.12550_12551delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368547.4:c.739+121_739+122delinsTC MANE Select	ENSP00000357535.3:n.739+121_739+122delinsTC
ENST00000368547.3:c.739+121_739+122delinsTC	ENSP00000357535.3:n.739+121_739+122delinsTC
NM_004092.3:c.739+121_739+122delinsTC	NP_004083.3:n.739+121_739+122delinsTC
XR_002956965.1:n.1595+121_1595+122delinsTC
NM_004092.4:c.739+121_739+122delinsTC MANE Select	NP_004083.3:n.739+121_739+122delinsTC