Canonical Allele Identifier: CA1946753015

Gene: ECHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133366138_133366140delinsCTT , CM000672.2:g.133366138_133366140delinsCTT	GRCh38
NC_000010.10:g.135179642_135179644delinsCTT , CM000672.1:g.135179642_135179644delinsCTT	GRCh37
NC_000010.9:g.135029632_135029634delinsCTT	NCBI36
NG_042077.1:g.12265_12267delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368547.4:c.620-45_620-43delinsAAG MANE Select	ENSP00000357535.3:n.620-45_620-43delinsAAG
ENST00000368547.3:c.620-45_620-43delinsAAG	ENSP00000357535.3:n.620-45_620-43delinsAAG
NM_004092.3:c.620-45_620-43delinsAAG	NP_004083.3:n.620-45_620-43delinsAAG
XR_002956965.1:n.1431_1433delinsAAG
NM_004092.4:c.620-45_620-43delinsAAG MANE Select	NP_004083.3:n.620-45_620-43delinsAAG