Canonical Allele Identifier: CA2624233951
Gene: MYH7 HGNC NCBI

Linked Data

gnomAD v4: 14-23422048-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23422052del , CM000676.2:g.23422052del GRCh38
NC_000014.8:g.23891261del , CM000676.1:g.23891261del GRCh37
NC_000014.7:g.22961101del NCBI36
NG_007884.1:g.18613del , LRG_384:g.18613del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3245+131del MANE Select ENSP00000347507.3:n.3245+131del
ENST00000355349.3:c.3245+131del ENSP00000347507.3:n.3245+131del
NM_000257.3:c.3245+131del NP_000248.2:n.3245+131del
XR_245686.3:n.3351+131del
XM_017021340.1:c.3245+131del XP_016876829.1:n.3245+131del
NM_000257.4:c.3245+131del MANE Select NP_000248.2:n.3245+131del
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