Canonical Allele Identifier: CA2573053877

Linked Data

ClinVar Variation Id: 1335943
ClinVar RCV Id: RCV001822125
dbSNP Id: rs2138640908

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415831_23415850del , CM000676.2:g.23415831_23415850del GRCh38
NC_000014.8:g.23885040_23885059del , CM000676.1:g.23885040_23885059del GRCh37
NC_000014.7:g.22954880_22954899del NCBI36
NG_007884.1:g.24815_24834del , LRG_384:g.24815_24834del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4954-15_4958del (MYH7)
ENST00000355349.3:c.4954-15_4958del (MYH7)
NM_000257.3:c.4954-15_4958del (MYH7)
NR_126491.1:n.261+2_261+21del (MHRT)
XM_017021340.1:c.4954-15_4958del (MYH7)
NM_000257.4:c.4954-15_4958del (MYH7)