Canonical Allele Identifier: CA2575504130
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417284_23417289del , CM000676.2:g.23417284_23417289del GRCh38
NC_000014.8:g.23886493_23886498del , CM000676.1:g.23886493_23886498del GRCh37
NC_000014.7:g.22956333_22956338del NCBI36
NG_007884.1:g.23374_23379del , LRG_384:g.23374_23379del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4384_4389del (MYH7) MANE Select ENSP00000347507.3:p.Glu1462_Ser1463del
ENST00000355349.3:c.4384_4389del (MYH7) ENSP00000347507.3:p.Glu1462_Ser1463del
NM_000257.3:c.4384_4389del (MYH7) NP_000248.2:p.Glu1462_Ser1463del
NR_126491.1:n.724_729del (MHRT)
XM_017021340.1:c.4384_4389del (MYH7) XP_016876829.1:p.Glu1462_Ser1463del
NM_000257.4:c.4384_4389del (MYH7) MANE Select NP_000248.2:p.Glu1462_Ser1463del
Search 100 bp 5'
Search 100 bp 3'