Canonical Allele Identifier:
CA215004
Gene:
Linked Data
ClinVar Variation Id:
127231
ClinVar RCV Id:
RCV000115030
dbSNP Id:
rs587777363
MyVariant Identifiers:
chr5:g.161964512_161964513insTGTTTACTAAACAAAAAGAAAGAGC (hg19)
chr5:g.162537506_162537507insTGTTTACTAAACAAAAAGAAAGAGC (hg38)
PubMed:
PMID:21714819
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.162537506_162537507insTGTTTACTAAACAAAAAGAAAGAGC , CM000667.2:g.162537506_162537507insTGTTTACTAAACAAAAAGAAAGAGC | GRCh38 |
| NC_000005.9:g.161964512_161964513insTGTTTACTAAACAAAAAGAAAGAGC , CM000667.1:g.161964512_161964513insTGTTTACTAAACAAAAAGAAAGAGC | GRCh37 |
| NC_000005.8:g.161897090_161897091insTGTTTACTAAACAAAAAGAAAGAGC | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_941159.1:n.1163+1323_1163+1324insGCTCTTTCTTTTTGTTTAGTAAACA | ||
| XR_941159.2:n.1921+1323_1921+1324insGCTCTTTCTTTTTGTTTAGTAAACA |