Linked Data
ClinVar Variation Id:
225401
ClinVar RCV Id:
RCV000490309
dbSNP Id:
rs559129841
ExAC:
3:186460047 CAGTT / C
gnomAD v2:
3-186460047-CAGTT-C
gnomAD v3:
3-186742258-CAGTT-C
gnomAD v4:
3-186742258-CAGTT-C
MyVariant Identifiers:
chr3:g.186460051_186460054del (hg19)
chr3:g.186460048_186460051del (hg19)
chr3:g.186742262_186742265del (hg38)
chr3:g.186742259_186742262del (hg38)
PubMed:
PMID:17522339
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186742262_186742265del , CM000665.2:g.186742262_186742265del | GRCh38 |
| NC_000003.11:g.186460051_186460054del , CM000665.1:g.186460051_186460054del | GRCh37 |
| NC_000003.10:g.187942745_187942748del | NCBI36 |
| NG_016009.1:g.29954_29957del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287611.8:c.1203+663_1203+666del | ENSP00000287611.2:n.1203+663_1203+666del | |
| ENST00000644859.2:c.1866_1869del MANE Select | ENSP00000493985.1:p.Ser623LysfsTer8 | |
| ENST00000265023.8:c.1866_1869del | ENSP00000265023.4:p.Ser623LysfsTer8 | |
| ENST00000287611.6:c.1203+663_1203+666del | ENSP00000287611.2:n.1203+663_1203+666del | |
| ENST00000447445.1:c.1095+663_1095+666del | ENSP00000396025.1:n.1095+663_1095+666del | |
| NM_000893.3:c.1203+663_1203+666del | NP_000884.1:n.1203+663_1203+666del | |
| NM_001102416.2:c.1866_1869del | NP_001095886.1:p.Ser623LysfsTer8 | |
| NM_001166451.1:c.1095+663_1095+666del | NP_001159923.1:n.1095+663_1095+666del | |
| NM_000893.4:c.1203+663_1203+666del | NP_000884.1:n.1203+663_1203+666del | |
| NM_001102416.3:c.1866_1869del MANE Select | NP_001095886.1:p.Ser623LysfsTer8 | |
| NM_001166451.2:c.1095+663_1095+666del | NP_001159923.1:n.1095+663_1095+666del |