Canonical Allele Identifier: CA2580616566

Gene: MYH7 MHRT

Linked Data

• ClinVar Variation Id: 2142196
• ClinVar RCV Id: RCV003060561

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23416113_23416115dup , CM000676.2:g.23416113_23416115dup	GRCh38
NC_000014.8:g.23885322_23885324dup , CM000676.1:g.23885322_23885324dup	GRCh37
NC_000014.7:g.22955162_22955164dup	NCBI36
NG_007884.1:g.24555_24557dup , LRG_384:g.24555_24557dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.4850_4852dup (MYH7) MANE Select	ENSP00000347507.3:p.Lys1617_Met1618insLys
ENST00000355349.3:c.4850_4852dup (MYH7)	ENSP00000347507.3:p.Lys1617_Met1618insLys
NM_000257.3:c.4850_4852dup (MYH7)	NP_000248.2:p.Lys1617_Met1618insLys
NR_126491.1:n.374_376dup (MHRT)
XM_017021340.1:c.4850_4852dup (MYH7)	XP_016876829.1:p.Lys1617_Met1618insLys
NM_000257.4:c.4850_4852dup (MYH7) MANE Select	NP_000248.2:p.Lys1617_Met1618insLys