Canonical Allele Identifier: CA2123462303
Gene: MYH7 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415173_23415176delinsTGCA , CM000676.2:g.23415173_23415176delinsTGCA GRCh38
NC_000014.8:g.23884382_23884385delinsTGCA , CM000676.1:g.23884382_23884385delinsTGCA GRCh37
NC_000014.7:g.22954222_22954225delinsTGCA NCBI36
NG_007884.1:g.25486_25489delinsTGCA , LRG_384:g.25486_25489delinsTGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5378_5381delinsTGCA MANE Select ENSP00000347507.3:p.Leu1793=
ENST00000355349.3:c.5378_5381delinsTGCA ENSP00000347507.3:p.Leu1793=
NM_000257.3:c.5378_5381delinsTGCA NP_000248.2:p.Leu1793=
XM_017021340.1:c.5378_5381delinsTGCA XP_016876829.1:p.Leu1793=
NM_000257.4:c.5378_5381delinsTGCA MANE Select NP_000248.2:p.Leu1793=
Search 100 bp 5'
Search 100 bp 3'