Canonical Allele Identifier: CA2123466354

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416346_23416350delinsACAGT , CM000676.2:g.23416346_23416350delinsACAGT GRCh38
NC_000014.8:g.23885555_23885559delinsACAGT , CM000676.1:g.23885555_23885559delinsACAGT GRCh37
NC_000014.7:g.22955395_22955399delinsACAGT NCBI36
NG_007884.1:g.24312_24316delinsACTGT , LRG_384:g.24312_24316delinsACTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4645-38_4645-34delinsACTGT (MYH7) MANE Select ENSP00000347507.3:n.4645-38_4645-34delinsACTGT
ENST00000355349.3:c.4645-38_4645-34delinsACTGT (MYH7) ENSP00000347507.3:n.4645-38_4645-34delinsACTGT
NM_000257.3:c.4645-38_4645-34delinsACTGT (MYH7) NP_000248.2:n.4645-38_4645-34delinsACTGT
NR_126491.1:n.558+49_558+53delinsACAGT (MHRT)
XM_017021340.1:c.4645-38_4645-34delinsACTGT (MYH7) XP_016876829.1:n.4645-38_4645-34delinsACTGT
NM_000257.4:c.4645-38_4645-34delinsACTGT (MYH7) MANE Select NP_000248.2:n.4645-38_4645-34delinsACTGT