Canonical Allele Identifier: CA2123445816
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23419744_23419745delinsAG , CM000676.2:g.23419744_23419745delinsAG GRCh38
NC_000014.8:g.23888953_23888954delinsAG , CM000676.1:g.23888953_23888954delinsAG GRCh37
NC_000014.7:g.22958793_22958794delinsAG NCBI36
NG_007884.1:g.20917_20918delinsCT , LRG_384:g.20917_20918delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3726+100_3726+101delinsCT MANE Select ENSP00000347507.3:n.3726+100_3726+101delinsCT
ENST00000355349.3:c.3726+100_3726+101delinsCT ENSP00000347507.3:n.3726+100_3726+101delinsCT
NM_000257.3:c.3726+100_3726+101delinsCT NP_000248.2:n.3726+100_3726+101delinsCT
XM_017021340.1:c.3726+100_3726+101delinsCT XP_016876829.1:n.3726+100_3726+101delinsCT
NM_000257.4:c.3726+100_3726+101delinsCT MANE Select NP_000248.2:n.3726+100_3726+101delinsCT