Canonical Allele Identifier: CA645581324
Gene: MYH7 HGNC NCBI

Linked Data

COSMIC: COSM6075525
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417613_23417614delinsAA , CM000676.2:g.23417613_23417614delinsAA GRCh38
NC_000014.8:g.23886822_23886823delinsAA , CM000676.1:g.23886822_23886823delinsAA GRCh37
NC_000014.7:g.22956662_22956663delinsAA NCBI36
NG_007884.1:g.23048_23049delinsTT , LRG_384:g.23048_23049delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4242_4243delinsTT MANE Select ENSP00000347507.3:p.Leu1415Ter
ENST00000355349.3:c.4242_4243delinsTT ENSP00000347507.3:p.Leu1415Ter
NM_000257.3:c.4242_4243delinsTT NP_000248.2:p.Leu1415Ter
XM_017021340.1:c.4242_4243delinsTT XP_016876829.1:p.Leu1415Ter
NM_000257.4:c.4242_4243delinsTT MANE Select NP_000248.2:p.Leu1415Ter
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