Canonical Allele Identifier: CA2123450970
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23422308_23422320delinsCTCCAGGGATCCT , CM000676.2:g.23422308_23422320delinsCTCCAGGGATCCT GRCh38
NC_000014.8:g.23891517_23891529delinsCTCCAGGGATCCT , CM000676.1:g.23891517_23891529delinsCTCCAGGGATCCT GRCh37
NC_000014.7:g.22961357_22961369delinsCTCCAGGGATCCT NCBI36
NG_007884.1:g.18342_18354delinsAGGATCCCTGGAG , LRG_384:g.18342_18354delinsAGGATCCCTGGAG

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.3105_3117delinsAGGATCCCTGGAG MANE Select ENSP00000347507.3:p.Glu1035=
ENST00000355349.3:c.3105_3117delinsAGGATCCCTGGAG ENSP00000347507.3:p.Glu1035=
NM_000257.3:c.3105_3117delinsAGGATCCCTGGAG NP_000248.2:p.Glu1035=
XR_245686.3:n.3211_3223delinsAGGATCCCTGGAG
XM_017021340.1:c.3105_3117delinsAGGATCCCTGGAG XP_016876829.1:p.Glu1035=
NM_000257.4:c.3105_3117delinsAGGATCCCTGGAG MANE Select NP_000248.2:p.Glu1035=