Canonical Allele Identifier: CA1946752922
Gene: ECHS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133366029_133366030delinsAT , CM000672.2:g.133366029_133366030delinsAT GRCh38
NC_000010.10:g.135179533_135179534delinsAT , CM000672.1:g.135179533_135179534delinsAT GRCh37
NC_000010.9:g.135029523_135029524delinsAT NCBI36
NG_042077.1:g.12375_12376delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.685_686delinsAT MANE Select ENSP00000357535.3:p.Ile229=
ENST00000368547.3:c.685_686delinsAT ENSP00000357535.3:p.Ile229=
NM_004092.3:c.685_686delinsAT NP_004083.3:p.Ile229=
XR_002956965.1:n.1541_1542delinsAT
NM_004092.4:c.685_686delinsAT MANE Select NP_004083.3:p.Ile229=
Search 100 bp 5'
Search 100 bp 3'