Canonical Allele Identifier: CA2546339057
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23429181_23429182insAT , CM000676.2:g.23429181_23429182insAT GRCh38
NC_000014.8:g.23898390_23898391insAT , CM000676.1:g.23898390_23898391insAT GRCh37
NC_000014.7:g.22968230_22968231insAT NCBI36
NG_007884.1:g.11480_11481insAT , LRG_384:g.11480_11481insAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1257+47_1257+48insAT MANE Select ENSP00000347507.3:n.1257+47_1257+48insAT
ENST00000355349.3:c.1257+47_1257+48insAT ENSP00000347507.3:n.1257+47_1257+48insAT
NM_000257.3:c.1257+47_1257+48insAT NP_000248.2:n.1257+47_1257+48insAT
XR_245686.3:n.1363+47_1363+48insAT
XM_017021340.1:c.1257+47_1257+48insAT XP_016876829.1:n.1257+47_1257+48insAT
NM_000257.4:c.1257+47_1257+48insAT MANE Select NP_000248.2:n.1257+47_1257+48insAT