Linked Data
dbSNP Id:
rs985152446
gnomAD v3:
3-150940400-T-TAG
gnomAD v4:
3-150940400-T-TAG
MyVariant Identifiers:
chr3:g.150658187_150658188insAG (hg19)
chr3:g.150940400_150940401insAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150940410_150940411dup , CM000665.2:g.150940410_150940411dup | GRCh38 |
| NC_000003.11:g.150658197_150658198dup , CM000665.1:g.150658197_150658198dup | GRCh37 |
| NC_000003.10:g.152140887_152140888dup | NCBI36 |
| NG_009168.1:g.37598_37599dup , LRG_700:g.37598_37599dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.433+1180_433+1181dup MANE Select | ENSP00000322280.1:n.433+1180_433+1181dup | |
| ENST00000468836.2:c.581+1180_581+1181dup | ENSP00000419892.2:n.581+1180_581+1181dup | |
| ENST00000295911.6:c.205+1180_205+1181dup | ENSP00000295911.2:n.205+1180_205+1181dup | |
| ENST00000327047.5:c.433+1180_433+1181dup | ENSP00000322280.1:n.433+1180_433+1181dup | |
| ENST00000328863.8:c.472+79_472+80dup | ENSP00000329158.4:n.472+79_472+80dup | |
| ENST00000468836.1:c.205+1180_205+1181dup | ENSP00000419892.1:n.205+1180_205+1181dup | |
| ENST00000485607.1:c.97+1180_97+1181dup | ENSP00000419244.1:n.97+1180_97+1181dup | |
| ENST00000562308.5:c.104+1180_104+1181dup | ||
| ENST00000565169.1:c.162+1180_162+1181dup | ||
| ENST00000569170.5:c.162+1180_162+1181dup | ||
| NM_001195794.1:c.472+79_472+80dup , LRG_700t1:c.472+79_472+80dup | NP_001182723.1:n.472+79_472+80dup | |
| NM_001256819.1:c.*47+1180_*47+1181dup | NP_001243748.1:n.*47+1180_*47+1181dup | |
| NM_052995.2:c.205+1180_205+1181dup , LRG_700t2:c.205+1180_205+1181dup | NP_443721.1:n.205+1180_205+1181dup | |
| NM_174878.2:c.433+1180_433+1181dup | NP_777367.1:n.433+1180_433+1181dup | |
| NR_046380.2:n.914+79_914+80dup | ||
| XR_924167.1:n.745+1180_745+1181dup | ||
| NM_001256819.2:c.*47+1180_*47+1181dup | NP_001243748.1:n.*47+1180_*47+1181dup | |
| NM_174878.3:c.433+1180_433+1181dup MANE Select | NP_777367.1:n.433+1180_433+1181dup | |
| NR_046380.3:n.642+79_642+80dup |