×
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:
CA2123450966
Gene: MYH7
HGNC
NCBI
Linked Data
dbSNP Id:
rs1892506507
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23422307del , CM000676.2:g.23422307del
GRCh38
NC_000014.8:g.23891516del , CM000676.1:g.23891516del
GRCh37
NC_000014.7:g.22961356del
NCBI36
NG_007884.1:g.18355del , LRG_384:g.18355del
Transcript Alleles
HGVS
Amino-acid change
ENST00000355349.4:c.3118del
MANE Select
ENSP00000347507.3:p.Gln1040LysfsTer20
ENST00000355349.3:c.3118del
ENSP00000347507.3:p.Gln1040LysfsTer20
NM_000257.3:c.3118del
NP_000248.2:p.Gln1040LysfsTer20
XR_245686.3:n.3224del
XM_017021340.1:c.3118del
XP_016876829.1:p.Gln1040LysfsTer20
NM_000257.4:c.3118del
MANE Select
NP_000248.2:p.Gln1040LysfsTer20
Search 100 bp 5'
Search 100 bp 3'