Canonical Allele Identifier: CA915946996
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 665805
ClinVar RCV Id: RCV000824170
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423678_23423679delinsTG , CM000676.2:g.23423678_23423679delinsTG GRCh38
NC_000014.8:g.23892887_23892888delinsTG , CM000676.1:g.23892887_23892888delinsTG GRCh37
NC_000014.7:g.22962727_22962728delinsTG NCBI36
NG_007884.1:g.16983_16984delinsCA , LRG_384:g.16983_16984delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2967_2968delinsCA MANE Select ENSP00000347507.3:p.Ala990Thr
ENST00000355349.3:c.2967_2968delinsCA ENSP00000347507.3:p.Ala990Thr
NM_000257.3:c.2967_2968delinsCA NP_000248.2:p.Ala990Thr
XR_245686.3:n.3073_3074delinsCA
XM_017021340.1:c.2967_2968delinsCA XP_016876829.1:p.Ala990Thr
NM_000257.4:c.2967_2968delinsCA MANE Select NP_000248.2:p.Ala990Thr
Search 100 bp 5'
Search 100 bp 3'