Canonical Allele Identifier: CA485766391

Linked Data

COSMIC: COSM392641
MyVariant Identifiers: chr14:g.23885444del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416236del , CM000676.2:g.23416236del GRCh38
NC_000014.8:g.23885445del , CM000676.1:g.23885445del GRCh37
NC_000014.7:g.22955285del NCBI36
NG_007884.1:g.24427del , LRG_384:g.24427del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4722del (MYH7) MANE Select ENSP00000347507.3:p.Lys1575SerfsTer?
ENST00000355349.3:c.4722del (MYH7) ENSP00000347507.3:p.Lys1575SerfsTer?
NM_000257.3:c.4722del (MYH7) NP_000248.2:p.Lys1575SerfsTer?
NR_126491.1:n.497del (MHRT)
XM_017021340.1:c.4722del (MYH7) XP_016876829.1:p.Lys1575SerfsTer?
NM_000257.4:c.4722del (MYH7) MANE Select NP_000248.2:p.Lys1575SerfsTer?