Canonical Allele Identifier: CA014612
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 181365
ClinVar RCV Id: RCV000158833 RCV003586158
dbSNP Id: rs730880891
MyVariant Identifiers: chr14:g.23886873_23886875del (hg19) chr14:g.23417664_23417666del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417666_23417668del , CM000676.2:g.23417666_23417668del GRCh38
NC_000014.8:g.23886875_23886877del , CM000676.1:g.23886875_23886877del GRCh37
NC_000014.7:g.22956715_22956717del NCBI36
NG_007884.1:g.22996_22998del , LRG_384:g.22996_22998del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4190_4192del MANE Select ENSP00000347507.3:p.Leu1397del
ENST00000355349.3:c.4190_4192del ENSP00000347507.3:p.Leu1397del
NM_000257.3:c.4190_4192del NP_000248.2:p.Leu1397del
XM_017021340.1:c.4190_4192del XP_016876829.1:p.Leu1397del
NM_000257.4:c.4190_4192del MANE Select NP_000248.2:p.Leu1397del
Search 100 bp 5'
Search 100 bp 3'