Linked Data
dbSNP Id:
rs747392486
ExAC:
10:72358193 C / CCCA
gnomAD v2:
10-72358193-C-CCCA
gnomAD v4:
10-70598437-C-CCCA
MyVariant Identifiers:
chr10:g.72358193_72358194insCCA (hg19)
chr10:g.70598437_70598438insCCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70598438_70598439insCAC , CM000672.2:g.70598438_70598439insCAC | GRCh38 |
| NC_000010.10:g.72358194_72358195insCAC , CM000672.1:g.72358194_72358195insCAC | GRCh37 |
| NC_000010.9:g.72028200_72028201insCAC | NCBI36 |
| NG_009615.1:g.9338_9339insTGG , LRG_94:g.9338_9339insTGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697571.1:c.2419-450_2419-449insCAC (PALD1) | ENSP00000513342.1:n.2419-450_2419-449insCAC | |
| ENST00000697572.1:c.2250+33919_2250+33920insCAC (PALD1) | ENSP00000513343.1:n.2250+33919_2250+33920insCAC | |
| ENST00000697573.1:c.2263-450_2263-449insCAC (PALD1) | ENSP00000513344.1:n.2263-450_2263-449insCAC | |
| ENST00000697577.1:n.2723-450_2723-449insCAC (PALD1) | ||
| ENST00000697578.1:n.2567-450_2567-449insCAC (PALD1) | ||
| ENST00000441259.2:c.1283_1284insTGG (PRF1) MANE Select | ENSP00000398568.1:p.Trp428delinsCysGly | |
| ENST00000638674.1:c.540-597_540-596insTGG (PRF1) | ENSP00000492048.1:n.540-597_540-596insTGG | |
| ENST00000639390.1:n.98-597_98-596insTGG (PRF1) | ||
| ENST00000373209.2:c.1283_1284insTGG (PRF1) | ENSP00000362305.1:p.Trp428delinsCysGly | |
| ENST00000441259.1:c.1283_1284insTGG (PRF1) | ENSP00000398568.1:p.Trp428delinsCysGly | |
| NM_001083116.1:c.1283_1284insTGG , LRG_94t1:c.1283_1284insTGG (PRF1) | NP_001076585.1:p.Trp428delinsCysGly | |
| NM_005041.4:c.1283_1284insTGG (PRF1) | NP_005032.2:p.Trp428delinsCysGly | |
| NM_001083116.2:c.1283_1284insTGG (PRF1) | NP_001076585.1:p.Trp428delinsCysGly | |
| NM_005041.5:c.1283_1284insTGG (PRF1) | NP_005032.2:p.Trp428delinsCysGly | |
| NM_001083116.3:c.1283_1284insTGG (PRF1) MANE Select | NP_001076585.1:p.Trp428delinsCysGly | |
| NM_005041.6:c.1283_1284insTGG (PRF1) | NP_005032.2:p.Trp428delinsCysGly |