Canonical Allele Identifier: CA2123452892
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423486_23423488delinsCAG , CM000676.2:g.23423486_23423488delinsCAG GRCh38
NC_000014.8:g.23892695_23892697delinsCAG , CM000676.1:g.23892695_23892697delinsCAG GRCh37
NC_000014.7:g.22962535_22962537delinsCAG NCBI36
NG_007884.1:g.17174_17176delinsCTG , LRG_384:g.17174_17176delinsCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3099+59_3099+61delinsCTG MANE Select ENSP00000347507.3:n.3099+59_3099+61delinsCTG
ENST00000355349.3:c.3099+59_3099+61delinsCTG ENSP00000347507.3:n.3099+59_3099+61delinsCTG
NM_000257.3:c.3099+59_3099+61delinsCTG NP_000248.2:n.3099+59_3099+61delinsCTG
XR_245686.3:n.3205+59_3205+61delinsCTG
XM_017021340.1:c.3099+59_3099+61delinsCTG XP_016876829.1:n.3099+59_3099+61delinsCTG
NM_000257.4:c.3099+59_3099+61delinsCTG MANE Select NP_000248.2:n.3099+59_3099+61delinsCTG