Canonical Allele Identifier: CA2123452822
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423443_23423444delinsAC , CM000676.2:g.23423443_23423444delinsAC GRCh38
NC_000014.8:g.23892652_23892653delinsAC , CM000676.1:g.23892652_23892653delinsAC GRCh37
NC_000014.7:g.22962492_22962493delinsAC NCBI36
NG_007884.1:g.17218_17219delinsGT , LRG_384:g.17218_17219delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3099+103_3099+104delinsGT MANE Select ENSP00000347507.3:n.3099+103_3099+104delinsGT
ENST00000355349.3:c.3099+103_3099+104delinsGT ENSP00000347507.3:n.3099+103_3099+104delinsGT
NM_000257.3:c.3099+103_3099+104delinsGT NP_000248.2:n.3099+103_3099+104delinsGT
XR_245686.3:n.3205+103_3205+104delinsGT
XM_017021340.1:c.3099+103_3099+104delinsGT XP_016876829.1:n.3099+103_3099+104delinsGT
NM_000257.4:c.3099+103_3099+104delinsGT MANE Select NP_000248.2:n.3099+103_3099+104delinsGT