Canonical Allele Identifier: CA2729049680
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs2138662516
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423631_23423656dup , CM000676.2:g.23423631_23423656dup GRCh38
NC_000014.8:g.23892840_23892865dup , CM000676.1:g.23892840_23892865dup GRCh37
NC_000014.7:g.22962680_22962705dup NCBI36
NG_007884.1:g.17006_17031dup , LRG_384:g.17006_17031dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2990_3015dup MANE Select ENSP00000347507.3:p.Ala1006LysfsTer24
ENST00000355349.3:c.2990_3015dup ENSP00000347507.3:p.Ala1006LysfsTer24
NM_000257.3:c.2990_3015dup NP_000248.2:p.Ala1006LysfsTer24
XR_245686.3:n.3096_3121dup
XM_017021340.1:c.2990_3015dup XP_016876829.1:p.Ala1006LysfsTer24
NM_000257.4:c.2990_3015dup MANE Select NP_000248.2:p.Ala1006LysfsTer24
Search 100 bp 5'
Search 100 bp 3'