Canonical Allele Identifier: CA2123451109
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1892925143

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431305_23431306del , CM000676.2:g.23431305_23431306del GRCh38
NC_000014.8:g.23900514_23900515del , CM000676.1:g.23900514_23900515del GRCh37
NC_000014.7:g.22970354_22970355del NCBI36
NG_007884.1:g.9359_9360del , LRG_384:g.9359_9360del

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.796+115_796+116del MANE Select ENSP00000347507.3:n.796+115_796+116del
ENST00000355349.3:c.796+115_796+116del ENSP00000347507.3:n.796+115_796+116del
NM_000257.3:c.796+115_796+116del NP_000248.2:n.796+115_796+116del
XR_245686.3:n.902+115_902+116del
XM_017021340.1:c.796+115_796+116del XP_016876829.1:n.796+115_796+116del
NM_000257.4:c.796+115_796+116del MANE Select NP_000248.2:n.796+115_796+116del