Canonical Allele Identifier: CA2624230013
Gene: MYH7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23425658_23425659dup , CM000676.2:g.23425658_23425659dup GRCh38
NC_000014.8:g.23894867_23894868dup , CM000676.1:g.23894867_23894868dup GRCh37
NC_000014.7:g.22964707_22964708dup NCBI36
NG_007884.1:g.15006_15007dup , LRG_384:g.15006_15007dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2286+39_2286+40dup MANE Select ENSP00000347507.3:n.2286+39_2286+40dup
ENST00000355349.3:c.2286+39_2286+40dup ENSP00000347507.3:n.2286+39_2286+40dup
NM_000257.3:c.2286+39_2286+40dup NP_000248.2:n.2286+39_2286+40dup
XR_245686.3:n.2392+39_2392+40dup
XM_017021340.1:c.2286+39_2286+40dup XP_016876829.1:n.2286+39_2286+40dup
NM_000257.4:c.2286+39_2286+40dup MANE Select NP_000248.2:n.2286+39_2286+40dup