×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2573149769
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1685379
ClinVar RCV Id:
RCV002249106
dbSNP Id:
rs2138638795
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23415255_23415272del , CM000676.2:g.23415255_23415272del
GRCh38
NC_000014.8:g.23884464_23884481del , CM000676.1:g.23884464_23884481del
GRCh37
NC_000014.7:g.22954304_22954321del
NCBI36
NG_007884.1:g.25393_25410del , LRG_384:g.25393_25410del
Transcript Alleles
HGVS
Amino-acid change
ENST00000355349.4:c.5285_5302del
ENST00000355349.3:c.5285_5302del
NM_000257.3:c.5285_5302del
XM_017021340.1:c.5285_5302del
NM_000257.4:c.5285_5302del
Search 100 bp 5'
Search 100 bp 3'