Canonical Allele Identifier: CA2575504277
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23419802_23419808del , CM000676.2:g.23419802_23419808del GRCh38
NC_000014.8:g.23889011_23889017del , CM000676.1:g.23889011_23889017del GRCh37
NC_000014.7:g.22958851_22958857del NCBI36
NG_007884.1:g.20860_20866del , LRG_384:g.20860_20866del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3726+43_3726+49del MANE Select ENSP00000347507.3:n.3726+43_3726+49del
ENST00000355349.3:c.3726+43_3726+49del ENSP00000347507.3:n.3726+43_3726+49del
NM_000257.3:c.3726+43_3726+49del NP_000248.2:n.3726+43_3726+49del
XM_017021340.1:c.3726+43_3726+49del XP_016876829.1:n.3726+43_3726+49del
NM_000257.4:c.3726+43_3726+49del MANE Select NP_000248.2:n.3726+43_3726+49del