Canonical Allele Identifier: CA2575486594
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23425189_23425190del , CM000676.2:g.23425189_23425190del GRCh38
NC_000014.8:g.23894398_23894399del , CM000676.1:g.23894398_23894399del GRCh37
NC_000014.7:g.22964238_22964239del NCBI36
NG_007884.1:g.15475_15476del , LRG_384:g.15475_15476del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2423+95_2423+96del MANE Select ENSP00000347507.3:n.2423+95_2423+96del
ENST00000355349.3:c.2423+95_2423+96del ENSP00000347507.3:n.2423+95_2423+96del
NM_000257.3:c.2423+95_2423+96del NP_000248.2:n.2423+95_2423+96del
XR_245686.3:n.2529+95_2529+96del
XM_017021340.1:c.2423+95_2423+96del XP_016876829.1:n.2423+95_2423+96del
NM_000257.4:c.2423+95_2423+96del MANE Select NP_000248.2:n.2423+95_2423+96del