Canonical Allele Identifier: CA2521252073
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23413740_23413745dup , CM000676.2:g.23413740_23413745dup GRCh38
NC_000014.8:g.23882949_23882954dup , CM000676.1:g.23882949_23882954dup GRCh37
NC_000014.7:g.22952789_22952794dup NCBI36
NG_007884.1:g.26919_26924dup , LRG_384:g.26919_26924dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5790+16_5790+21dup MANE Select ENSP00000347507.3:n.5790+16_5790+21dup
ENST00000355349.3:c.5790+16_5790+21dup ENSP00000347507.3:n.5790+16_5790+21dup
NM_000257.3:c.5790+16_5790+21dup NP_000248.2:n.5790+16_5790+21dup
XM_017021340.1:c.5790+16_5790+21dup XP_016876829.1:n.5790+16_5790+21dup
NM_000257.4:c.5790+16_5790+21dup MANE Select NP_000248.2:n.5790+16_5790+21dup