Canonical Allele Identifier: CA2575504410
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423489_23423490dup , CM000676.2:g.23423489_23423490dup GRCh38
NC_000014.8:g.23892698_23892699dup , CM000676.1:g.23892698_23892699dup GRCh37
NC_000014.7:g.22962538_22962539dup NCBI36
NG_007884.1:g.17174_17175dup , LRG_384:g.17174_17175dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3099+59_3099+60dup MANE Select ENSP00000347507.3:n.3099+59_3099+60dup
ENST00000355349.3:c.3099+59_3099+60dup ENSP00000347507.3:n.3099+59_3099+60dup
NM_000257.3:c.3099+59_3099+60dup NP_000248.2:n.3099+59_3099+60dup
XR_245686.3:n.3205+59_3205+60dup
XM_017021340.1:c.3099+59_3099+60dup XP_016876829.1:n.3099+59_3099+60dup
NM_000257.4:c.3099+59_3099+60dup MANE Select NP_000248.2:n.3099+59_3099+60dup