Canonical Allele Identifier: CA2695202558
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23429085_23429087delinsTCT , CM000676.2:g.23429085_23429087delinsTCT GRCh38
NC_000014.8:g.23898294_23898296delinsTCT , CM000676.1:g.23898294_23898296delinsTCT GRCh37
NC_000014.7:g.22968134_22968136delinsTCT NCBI36
NG_007884.1:g.11575_11577delinsAGA , LRG_384:g.11575_11577delinsAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1275_1277delinsAGA MANE Select ENSP00000347507.3:p.Ala426Glu
ENST00000355349.3:c.1275_1277delinsAGA ENSP00000347507.3:p.Ala426Glu
NM_000257.3:c.1275_1277delinsAGA NP_000248.2:p.Ala426Glu
XR_245686.3:n.1381_1383delinsAGA
XM_017021340.1:c.1275_1277delinsAGA XP_016876829.1:p.Ala426Glu
NM_000257.4:c.1275_1277delinsAGA MANE Select NP_000248.2:p.Ala426Glu