Canonical Allele Identifier: CA2580087907

Linked Data

ClinVar Variation Id: 2044159
ClinVar RCV Id: RCV002903474

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417476_23417485del , CM000676.2:g.23417476_23417485del GRCh38
NC_000014.8:g.23886685_23886694del , CM000676.1:g.23886685_23886694del GRCh37
NC_000014.7:g.22956525_22956534del NCBI36
NG_007884.1:g.23179_23188del , LRG_384:g.23179_23188del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4353+20_4353+29del (MYH7) MANE Select ENSP00000347507.3:n.4353+20_4353+29del
ENST00000355349.3:c.4353+20_4353+29del (MYH7) ENSP00000347507.3:n.4353+20_4353+29del
NM_000257.3:c.4353+20_4353+29del (MYH7) NP_000248.2:n.4353+20_4353+29del
NR_126491.1:n.814-57_814-48del (MHRT)
XM_017021340.1:c.4353+20_4353+29del (MYH7) XP_016876829.1:n.4353+20_4353+29del
NM_000257.4:c.4353+20_4353+29del (MYH7) MANE Select NP_000248.2:n.4353+20_4353+29del