Canonical Allele Identifier: CA2123457304
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23425293_23425294delinsCA , CM000676.2:g.23425293_23425294delinsCA GRCh38
NC_000014.8:g.23894502_23894503delinsCA , CM000676.1:g.23894502_23894503delinsCA GRCh37
NC_000014.7:g.22964342_22964343delinsCA NCBI36
NG_007884.1:g.15368_15369delinsTG , LRG_384:g.15368_15369delinsTG

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.2411_2412delinsTG MANE Select ENSP00000347507.3:p.Leu804=
ENST00000355349.3:c.2411_2412delinsTG ENSP00000347507.3:p.Leu804=
NM_000257.3:c.2411_2412delinsTG NP_000248.2:p.Leu804=
XR_245686.3:n.2517_2518delinsTG
XM_017021340.1:c.2411_2412delinsTG XP_016876829.1:p.Leu804=
NM_000257.4:c.2411_2412delinsTG MANE Select NP_000248.2:p.Leu804=