Canonical Allele Identifier: CA2624236468
Gene: MYH7 HGNC NCBI

Linked Data

gnomAD v4: 14-23428636-GTGAAGT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23428640_23428645del , CM000676.2:g.23428640_23428645del GRCh38
NC_000014.8:g.23897849_23897854del , CM000676.1:g.23897849_23897854del GRCh37
NC_000014.7:g.22967689_22967694del NCBI36
NG_007884.1:g.12020_12025del , LRG_384:g.12020_12025del

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.1436_1441del MANE Select ENSP00000347507.3:p.Asn479_Phe480del
ENST00000355349.3:c.1436_1441del ENSP00000347507.3:p.Asn479_Phe480del
NM_000257.3:c.1436_1441del NP_000248.2:p.Asn479_Phe480del
XR_245686.3:n.1542_1547del
XM_017021340.1:c.1436_1441del XP_016876829.1:p.Asn479_Phe480del
NM_000257.4:c.1436_1441del MANE Select NP_000248.2:p.Asn479_Phe480del
Search 100 bp 5'
Search 100 bp 3'