Canonical Allele Identifier: CA2123448014
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1892438208

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23420655_23420667del , CM000676.2:g.23420655_23420667del GRCh38
NC_000014.8:g.23889864_23889876del , CM000676.1:g.23889864_23889876del GRCh37
NC_000014.7:g.22959704_22959716del NCBI36
NG_007884.1:g.19996_20008del , LRG_384:g.19996_20008del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3336+292_3336+304del MANE Select ENSP00000347507.3:n.3336+292_3336+304del
ENST00000355349.3:c.3336+292_3336+304del ENSP00000347507.3:n.3336+292_3336+304del
NM_000257.3:c.3336+292_3336+304del NP_000248.2:n.3336+292_3336+304del
XR_245686.3:n.3444+292_3444+304del
XM_017021340.1:c.3336+292_3336+304del XP_016876829.1:n.3336+292_3336+304del
NM_000257.4:c.3336+292_3336+304del MANE Select NP_000248.2:n.3336+292_3336+304del