Canonical Allele Identifier: CA1946721111

Gene: ECHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133373346_133373372delinsTCCTCGCCCGGCCCCGCGGAGCCGCCC , CM000672.2:g.133373346_133373372delinsTCCTCGCCCGGCCCCGCGGAGCCGCCC	GRCh38
NC_000010.10:g.135186850_135186876delinsTCCTCGCCCGGCCCCGCGGAGCCGCCC , CM000672.1:g.135186850_135186876delinsTCCTCGCCCGGCCCCGCGGAGCCGCCC	GRCh37
NC_000010.9:g.135036840_135036866delinsTCCTCGCCCGGCCCCGCGGAGCCGCCC	NCBI36
NG_042077.1:g.5033_5059delinsGGGCGGCTCCGCGGGGCCGGGCGAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368547.3:c.-39_-13delinsGGGCGGCTCCGCGGGGCCGGGCGAGGA	ENSP00000357535.3:n.-39_-13delinsGGGCGGCTCCGCGGGGCCGGGCGAGGA
NM_004092.3:c.-39_-13delinsGGGCGGCTCCGCGGGGCCGGGCGAGGA	NP_004083.3:n.-39_-13delinsGGGCGGCTCCGCGGGGCCGGGCGAGGA
XR_002956965.1:n.25_51delinsGGGCGGCTCCGCGGGGCCGGGCGAGGA