Linked Data
ClinVar Variation Id:
370750
ClinVar RCV Id:
RCV000409510
dbSNP Id:
rs1057516741
gnomAD v3:
1-99875237-TTAAC-T
gnomAD v4:
1-99875237-TTAAC-T
PubMed:
PMID:11757581
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.99875240_99875243del , CM000663.2:g.99875240_99875243del | GRCh38 |
| NC_000001.10:g.100340796_100340799del , CM000663.1:g.100340796_100340799del | GRCh37 |
| NC_000001.9:g.100113384_100113387del | NCBI36 |
| NG_012865.1:g.30157_30160del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361915.8:c.1169_1172del MANE Select | ENSP00000355106.3:p.Asn390IlefsTer26 | |
| ENST00000637337.1:n.1380_1383del | ||
| ENST00000294724.8:c.1169_1172del | ENSP00000294724.4:p.Asn390IlefsTer26 | |
| ENST00000361302.7:c.1121_1124del | ENSP00000354971.3:p.Asn374IlefsTer26 | |
| ENST00000361522.4:c.1118_1121del | ENSP00000354635.4:p.Asn373IlefsTer26 | |
| ENST00000361915.7:c.1169_1172del | ENSP00000355106.3:p.Asn390IlefsTer26 | |
| ENST00000370161.6:c.1121_1124del | ENSP00000359180.2:p.Asn374IlefsTer26 | |
| ENST00000370163.7:c.1169_1172del | ENSP00000359182.3:p.Asn390IlefsTer26 | |
| ENST00000370165.7:c.1169_1172del | ENSP00000359184.3:p.Asn390IlefsTer26 | |
| ENST00000477753.1:n.428_431del | ||
| NM_000028.2:c.1169_1172del | NP_000019.2:p.Asn390IlefsTer26 | |
| NM_000642.2:c.1169_1172del | NP_000633.2:p.Asn390IlefsTer26 | |
| NM_000643.2:c.1169_1172del | NP_000634.2:p.Asn390IlefsTer26 | |
| NM_000644.2:c.1169_1172del | NP_000635.2:p.Asn390IlefsTer26 | |
| NM_000645.2:c.1118_1121del | NP_000636.2:p.Asn373IlefsTer26 | |
| NM_000646.2:c.1121_1124del | NP_000637.2:p.Asn374IlefsTer26 | |
| XM_005270557.1:c.1169_1172del | XP_005270614.1:p.Asn390IlefsTer26 | |
| XM_005270557.2:c.1169_1172del | XP_005270614.1:p.Asn390IlefsTer26 | |
| NM_000642.3:c.1169_1172del MANE Select | NP_000633.2:p.Asn390IlefsTer26 |