Canonical Allele Identifier: CA2123444550

Gene: MYH7

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23419266_23419269delinsCCTT , CM000676.2:g.23419266_23419269delinsCCTT	GRCh38
NC_000014.8:g.23888475_23888478delinsCCTT , CM000676.1:g.23888475_23888478delinsCCTT	GRCh37
NC_000014.7:g.22958315_22958318delinsCCTT	NCBI36
NG_007884.1:g.21393_21396delinsAAGG , LRG_384:g.21393_21396delinsAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.3880_3883delinsAAGG MANE Select	ENSP00000347507.3:p.Lys1294=
ENST00000355349.3:c.3880_3883delinsAAGG	ENSP00000347507.3:p.Lys1294=
NM_000257.3:c.3880_3883delinsAAGG	NP_000248.2:p.Lys1294=
XM_017021340.1:c.3880_3883delinsAAGG	XP_016876829.1:p.Lys1294=
NM_000257.4:c.3880_3883delinsAAGG MANE Select	NP_000248.2:p.Lys1294=