Canonical Allele Identifier: CA015559
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 43051
ClinVar RCV Id: RCV000035945
dbSNP Id: rs397516234
MyVariant Identifiers: chr14:g.23884975_23884980del (hg19) chr14:g.23415766_23415771del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415771_23415776del , CM000676.2:g.23415771_23415776del GRCh38
NC_000014.8:g.23884980_23884985del , CM000676.1:g.23884980_23884985del GRCh37
NC_000014.7:g.22954820_22954825del NCBI36
NG_007884.1:g.24891_24896del , LRG_384:g.24891_24896del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5015_5020del (MYH7) MANE Select ENSP00000347507.3:p.Ala1672_Ile1673del
ENST00000355349.3:c.5015_5020del (MYH7) ENSP00000347507.3:p.Ala1672_Ile1673del
NM_000257.3:c.5015_5020del (MYH7) NP_000248.2:p.Ala1672_Ile1673del
NR_126491.1:n.203_208del (MHRT)
XM_017021340.1:c.5015_5020del (MYH7) XP_016876829.1:p.Ala1672_Ile1673del
NM_000257.4:c.5015_5020del (MYH7) MANE Select NP_000248.2:p.Ala1672_Ile1673del
Search 100 bp 5'
Search 100 bp 3'