Canonical Allele Identifier: CA2624238645
Gene: MYH7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23424716_23424717del , CM000676.2:g.23424716_23424717del GRCh38
NC_000014.8:g.23893925_23893926del , CM000676.1:g.23893925_23893926del GRCh37
NC_000014.7:g.22963765_22963766del NCBI36
NG_007884.1:g.15946_15947del , LRG_384:g.15946_15947del

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.2679+53_2679+54del MANE Select ENSP00000347507.3:n.2679+53_2679+54del
ENST00000355349.3:c.2679+53_2679+54del ENSP00000347507.3:n.2679+53_2679+54del
NM_000257.3:c.2679+53_2679+54del NP_000248.2:n.2679+53_2679+54del
XR_245686.3:n.2785+53_2785+54del
XM_017021340.1:c.2679+53_2679+54del XP_016876829.1:n.2679+53_2679+54del
NM_000257.4:c.2679+53_2679+54del MANE Select NP_000248.2:n.2679+53_2679+54del