Canonical Allele Identifier: CA2123451090
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431285_23431287delinsCAG , CM000676.2:g.23431285_23431287delinsCAG GRCh38
NC_000014.8:g.23900494_23900496delinsCAG , CM000676.1:g.23900494_23900496delinsCAG GRCh37
NC_000014.7:g.22970334_22970336delinsCAG NCBI36
NG_007884.1:g.9375_9377delinsCTG , LRG_384:g.9375_9377delinsCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.796+131_796+133delinsCTG MANE Select ENSP00000347507.3:n.796+131_796+133delinsCTG
ENST00000355349.3:c.796+131_796+133delinsCTG ENSP00000347507.3:n.796+131_796+133delinsCTG
NM_000257.3:c.796+131_796+133delinsCTG NP_000248.2:n.796+131_796+133delinsCTG
XR_245686.3:n.902+131_902+133delinsCTG
XM_017021340.1:c.796+131_796+133delinsCTG XP_016876829.1:n.796+131_796+133delinsCTG
NM_000257.4:c.796+131_796+133delinsCTG MANE Select NP_000248.2:n.796+131_796+133delinsCTG