Canonical Allele Identifier: CA918798925

Gene: ECHS1

Linked Data

• dbSNP Id: rs1564803399

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133365855del , CM000672.2:g.133365855del	GRCh38
NC_000010.10:g.135179359del , CM000672.1:g.135179359del	GRCh37
NC_000010.9:g.135029349del	NCBI36
NG_042077.1:g.12550del

Transcript Alleles

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