Linked Data
ClinVar Variation Id:
1028735
ClinVar RCV Id:
RCV001329863
dbSNP Id:
rs765476509
ExAC:
19:13054627 A / ATTGTC
gnomAD v2:
19-13054627-A-ATTGTC
gnomAD v3:
19-12943813-A-ATTGTC
gnomAD v4:
19-12943813-A-ATTGTC
COSMIC:
COSM1738056
MyVariant Identifiers:
chr19:g.13054627_13054628insTTGTC (hg19)
chr19:g.12943813_12943814insTTGTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12943813_12943814insTTGTC , CM000681.2:g.12943813_12943814insTTGTC | GRCh38 |
| NC_000019.9:g.13054627_13054628insTTGTC , CM000681.1:g.13054627_13054628insTTGTC | GRCh37 |
| NC_000019.8:g.12915627_12915628insTTGTC | NCBI36 |
| NG_029662.1:g.10214_10215insTTGTC , LRG_828:g.10214_10215insTTGTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316448.10:c.1154_1155insTTGTC MANE Select | ENSP00000320866.4:p.Lys385AsnfsTer? | |
| ENST00000586760.2:c.1097+57_1097+58insTTGTC | ENSP00000465918.2:n.1097+57_1097+58insTTGTC | |
| ENST00000586967.2:c.1154_1155insTTGTC | ENSP00000466037.2:p.Lys385AsnfsTer? | |
| ENST00000588454.6:c.950_951insTTGTC | ENSP00000465105.2:p.Lys317AsnfsTer? | |
| ENST00000680816.1:c.*171_*172insTTGTC | ENSP00000504963.1:n.*171_*172insTTGTC | |
| ENST00000316448.9:c.1154_1155insTTGTC | ENSP00000320866.4:p.Lys385AsnfsTer? | |
| ENST00000586760.1:c.451+57_451+58insTTGTC | ||
| ENST00000586803.1:n.518_519insTTGTC | ||
| NM_004343.3:c.1154_1155insTTGTC , LRG_828t1:c.1154_1155insTTGTC | NP_004334.1:p.Lys385AsnfsTer? | |
| NM_004343.4:c.1154_1155insTTGTC MANE Select | NP_004334.1:p.Lys385AsnfsTer? |