Canonical Allele Identifier: CA2800863570
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23419490_23419498del , CM000676.2:g.23419490_23419498del GRCh38
NC_000014.8:g.23888699_23888707del , CM000676.1:g.23888699_23888707del GRCh37
NC_000014.7:g.22958539_22958547del NCBI36
NG_007884.1:g.21164_21172del , LRG_384:g.21164_21172del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3838_3846del MANE Select ENSP00000347507.3:p.Leu1280_Thr1282del
ENST00000355349.3:c.3838_3846del ENSP00000347507.3:p.Leu1280_Thr1282del
NM_000257.3:c.3838_3846del NP_000248.2:p.Leu1280_Thr1282del
XM_017021340.1:c.3838_3846del XP_016876829.1:p.Leu1280_Thr1282del
NM_000257.4:c.3838_3846del MANE Select NP_000248.2:p.Leu1280_Thr1282del