Canonical Allele Identifier: CA612937365
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1198694178
gnomAD v2: 14-23892700-CTCTGG-C
gnomAD v3: 14-23423491-CTCTGG-C
gnomAD v4: 14-23423491-CTCTGG-C
MyVariant Identifiers: chr14:g.23892701_23892705del (hg19) chr14:g.23423492_23423496del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423492_23423496del , CM000676.2:g.23423492_23423496del GRCh38
NC_000014.8:g.23892701_23892705del , CM000676.1:g.23892701_23892705del GRCh37
NC_000014.7:g.22962541_22962545del NCBI36
NG_007884.1:g.17166_17170del , LRG_384:g.17166_17170del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3099+51_3099+55del MANE Select ENSP00000347507.3:n.3099+51_3099+55del
ENST00000355349.3:c.3099+51_3099+55del ENSP00000347507.3:n.3099+51_3099+55del
NM_000257.3:c.3099+51_3099+55del NP_000248.2:n.3099+51_3099+55del
XR_245686.3:n.3205+51_3205+55del
XM_017021340.1:c.3099+51_3099+55del XP_016876829.1:n.3099+51_3099+55del
NM_000257.4:c.3099+51_3099+55del MANE Select NP_000248.2:n.3099+51_3099+55del
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