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Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23416271_23416287delinsCTGGGCCCGGAGGATCT , CM000676.2:g.23416271_23416287delinsCTGGGCCCGGAGGATCT
GRCh38
NC_000014.8:g.23885480_23885496delinsCTGGGCCCGGAGGATCT , CM000676.1:g.23885480_23885496delinsCTGGGCCCGGAGGATCT
GRCh37
NC_000014.7:g.22955320_22955336delinsCTGGGCCCGGAGGATCT
NCBI36
NG_007884.1:g.24375_24391delinsAGATCCTCCGGGCCCAG , LRG_384:g.24375_24391delinsAGATCCTCCGGGCCCAG
Transcript Alleles
HGVS
Amino-acid Change
ENST00000355349.4:c.4670_4686delinsAGATCCTCCGGGCCCAG
(MYH7)
MANE Select
ENSP00000347507.3:p.Lys1557=
ENST00000355349.3:c.4670_4686delinsAGATCCTCCGGGCCCAG
(MYH7)
ENSP00000347507.3:p.Lys1557=
NM_000257.3:c.4670_4686delinsAGATCCTCCGGGCCCAG
(MYH7)
NP_000248.2:p.Lys1557=
NR_126491.1:n.532_548delinsCTGGGCCCGGAGGATCT
(MHRT)
XM_017021340.1:c.4670_4686delinsAGATCCTCCGGGCCCAG
(MYH7)
XP_016876829.1:p.Lys1557=
NM_000257.4:c.4670_4686delinsAGATCCTCCGGGCCCAG
(MYH7)
MANE Select
NP_000248.2:p.Lys1557=