Canonical Allele Identifier: CA2624235434
Gene: MYH7 HGNC NCBI

Linked Data

gnomAD v4: 14-23423446-C-CACACACACACACAT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423459_23423460insTACACACACACACA , CM000676.2:g.23423459_23423460insTACACACACACACA GRCh38
NC_000014.8:g.23892668_23892669insTACACACACACACA , CM000676.1:g.23892668_23892669insTACACACACACACA GRCh37
NC_000014.7:g.22962508_22962509insTACACACACACACA NCBI36
NG_007884.1:g.17215_17216insATGTGTGTGTGTGT , LRG_384:g.17215_17216insATGTGTGTGTGTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3099+100_3099+101insATGTGTGTGTGTGT MANE Select ENSP00000347507.3:n.3099+100_3099+101insATGTGTGTGTGTGT
ENST00000355349.3:c.3099+100_3099+101insATGTGTGTGTGTGT ENSP00000347507.3:n.3099+100_3099+101insATGTGTGTGTGTGT
NM_000257.3:c.3099+100_3099+101insATGTGTGTGTGTGT NP_000248.2:n.3099+100_3099+101insATGTGTGTGTGTGT
XR_245686.3:n.3205+100_3205+101insATGTGTGTGTGTGT
XM_017021340.1:c.3099+100_3099+101insATGTGTGTGTGTGT XP_016876829.1:n.3099+100_3099+101insATGTGTGTGTGTGT
NM_000257.4:c.3099+100_3099+101insATGTGTGTGTGTGT MANE Select NP_000248.2:n.3099+100_3099+101insATGTGTGTGTGTGT
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