Canonical Allele Identifier: CA257815699
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs34856803
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23420098del , CM000676.2:g.23420098del GRCh38
NC_000014.8:g.23889307del , CM000676.1:g.23889307del GRCh37
NC_000014.7:g.22959147del NCBI36
NG_007884.1:g.20565del , LRG_384:g.20565del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3474del MANE Select ENSP00000347507.3:p.Val1159CysfsTer5
ENST00000355349.3:c.3474del ENSP00000347507.3:p.Val1159CysfsTer5
NM_000257.3:c.3474del NP_000248.2:p.Val1159CysfsTer5
XM_017021340.1:c.3474del XP_016876829.1:p.Val1159CysfsTer5
NM_000257.4:c.3474del MANE Select NP_000248.2:p.Val1159CysfsTer5
Search 100 bp 5'
Search 100 bp 3'