Canonical Allele Identifier: CA2123446719
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23420086_23420089delinsTCGA , CM000676.2:g.23420086_23420089delinsTCGA GRCh38
NC_000014.8:g.23889295_23889298delinsTCGA , CM000676.1:g.23889295_23889298delinsTCGA GRCh37
NC_000014.7:g.22959135_22959138delinsTCGA NCBI36
NG_007884.1:g.20573_20576delinsTCGA , LRG_384:g.20573_20576delinsTCGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3482_3485delinsTCGA MANE Select ENSP00000347507.3:p.Ile1161=
ENST00000355349.3:c.3482_3485delinsTCGA ENSP00000347507.3:p.Ile1161=
NM_000257.3:c.3482_3485delinsTCGA NP_000248.2:p.Ile1161=
XM_017021340.1:c.3482_3485delinsTCGA XP_016876829.1:p.Ile1161=
NM_000257.4:c.3482_3485delinsTCGA MANE Select NP_000248.2:p.Ile1161=