Canonical Allele Identifier: CA612937157
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1379835704
gnomAD v2: 14-23891731-GGAATAAAT-G
gnomAD v3: 14-23422522-GGAATAAAT-G
gnomAD v4: 14-23422522-GGAATAAAT-G
MyVariant Identifiers: chr14:g.23891732_23891739del (hg19) chr14:g.23422523_23422530del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23422525_23422532del , CM000676.2:g.23422525_23422532del GRCh38
NC_000014.8:g.23891734_23891741del , CM000676.1:g.23891734_23891741del GRCh37
NC_000014.7:g.22961574_22961581del NCBI36
NG_007884.1:g.18132_18139del , LRG_384:g.18132_18139del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3100-205_3100-198del MANE Select ENSP00000347507.3:n.3100-205_3100-198del
ENST00000355349.3:c.3100-205_3100-198del ENSP00000347507.3:n.3100-205_3100-198del
NM_000257.3:c.3100-205_3100-198del NP_000248.2:n.3100-205_3100-198del
XR_245686.3:n.3206-205_3206-198del
XM_017021340.1:c.3100-205_3100-198del XP_016876829.1:n.3100-205_3100-198del
NM_000257.4:c.3100-205_3100-198del MANE Select NP_000248.2:n.3100-205_3100-198del
Search 100 bp 5'
Search 100 bp 3'