Canonical Allele Identifier: CA2123452744

Gene: MYH7

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23423434_23423436delinsCAA , CM000676.2:g.23423434_23423436delinsCAA	GRCh38
NC_000014.8:g.23892643_23892645delinsCAA , CM000676.1:g.23892643_23892645delinsCAA	GRCh37
NC_000014.7:g.22962483_22962485delinsCAA	NCBI36
NG_007884.1:g.17226_17228delinsTTG , LRG_384:g.17226_17228delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.3099+111_3099+113delinsTTG MANE Select	ENSP00000347507.3:n.3099+111_3099+113delinsTTG
ENST00000355349.3:c.3099+111_3099+113delinsTTG	ENSP00000347507.3:n.3099+111_3099+113delinsTTG
NM_000257.3:c.3099+111_3099+113delinsTTG	NP_000248.2:n.3099+111_3099+113delinsTTG
XR_245686.3:n.3205+111_3205+113delinsTTG
XM_017021340.1:c.3099+111_3099+113delinsTTG	XP_016876829.1:n.3099+111_3099+113delinsTTG
NM_000257.4:c.3099+111_3099+113delinsTTG MANE Select	NP_000248.2:n.3099+111_3099+113delinsTTG