Linked Data
ClinVar Variation Id:
1438378
ClinVar RCV Id:
RCV001948960
dbSNP Id:
rs759727721
ExAC:
1:100349980 T / TGTCTC
gnomAD v2:
1-100349980-T-TGTCTC
gnomAD v3:
1-99884424-T-TGTCTC
gnomAD v4:
1-99884424-T-TGTCTC
MyVariant Identifiers:
chr1:g.100349980_100349981insGTCTC (hg19)
chr1:g.99884424_99884425insGTCTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.99884425_99884429dup , CM000663.2:g.99884425_99884429dup | GRCh38 |
| NC_000001.10:g.100349981_100349985dup , CM000663.1:g.100349981_100349985dup | GRCh37 |
| NC_000001.9:g.100122569_100122573dup | NCBI36 |
| NG_012865.1:g.39342_39346dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361915.8:c.2520_2524dup MANE Select | ENSP00000355106.3:p.Pro842ArgfsTer28 | |
| ENST00000637337.1:n.2731_2735dup | ||
| ENST00000294724.8:c.2520_2524dup | ENSP00000294724.4:p.Pro842ArgfsTer28 | |
| ENST00000361302.7:c.2472_2476dup | ENSP00000354971.3:p.Pro826ArgfsTer28 | |
| ENST00000361522.4:c.2469_2473dup | ENSP00000354635.4:p.Pro825ArgfsTer28 | |
| ENST00000361915.7:c.2520_2524dup | ENSP00000355106.3:p.Pro842ArgfsTer28 | |
| ENST00000370161.6:c.2472_2476dup | ENSP00000359180.2:p.Pro826ArgfsTer28 | |
| ENST00000370163.7:c.2520_2524dup | ENSP00000359182.3:p.Pro842ArgfsTer28 | |
| ENST00000370165.7:c.2520_2524dup | ENSP00000359184.3:p.Pro842ArgfsTer28 | |
| NM_000028.2:c.2520_2524dup | NP_000019.2:p.Pro842ArgfsTer28 | |
| NM_000642.2:c.2520_2524dup | NP_000633.2:p.Pro842ArgfsTer28 | |
| NM_000643.2:c.2520_2524dup | NP_000634.2:p.Pro842ArgfsTer28 | |
| NM_000644.2:c.2520_2524dup | NP_000635.2:p.Pro842ArgfsTer28 | |
| NM_000645.2:c.2469_2473dup | NP_000636.2:p.Pro825ArgfsTer28 | |
| NM_000646.2:c.2472_2476dup | NP_000637.2:p.Pro826ArgfsTer28 | |
| XM_005270557.1:c.2520_2524dup | XP_005270614.1:p.Pro842ArgfsTer28 | |
| XM_005270557.2:c.2520_2524dup | XP_005270614.1:p.Pro842ArgfsTer28 | |
| XM_017000501.2:c.780_784dup | XP_016855990.1:p.Pro262ArgfsTer28 | |
| NM_000642.3:c.2520_2524dup MANE Select | NP_000633.2:p.Pro842ArgfsTer28 |