Canonical Allele Identifier: CA2800863546
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23419432_23419444del , CM000676.2:g.23419432_23419444del GRCh38
NC_000014.8:g.23888641_23888653del , CM000676.1:g.23888641_23888653del GRCh37
NC_000014.7:g.22958481_22958493del NCBI36
NG_007884.1:g.21218_21230del , LRG_384:g.21218_21230del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3853+39_3853+51del MANE Select ENSP00000347507.3:n.3853+39_3853+51del
ENST00000355349.3:c.3853+39_3853+51del ENSP00000347507.3:n.3853+39_3853+51del
NM_000257.3:c.3853+39_3853+51del NP_000248.2:n.3853+39_3853+51del
XM_017021340.1:c.3853+39_3853+51del XP_016876829.1:n.3853+39_3853+51del
NM_000257.4:c.3853+39_3853+51del MANE Select NP_000248.2:n.3853+39_3853+51del