Linked Data
ClinVar Variation Id:
232062
dbSNP Id:
rs771654971
ExAC:
17:59761146 A / AT
gnomAD v2:
17-59761146-A-AT
gnomAD v4:
17-61683785-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683791dup , CM000679.2:g.61683791dup | GRCh38 |
| NC_000017.10:g.59761152dup , CM000679.1:g.59761152dup | GRCh37 |
| NC_000017.9:g.57115934dup | NCBI36 |
| NG_007409.2:g.184774dup , LRG_300:g.184774dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682073.1:n.2000dup | ||
| ENST00000682453.1:c.3260dup | ENSP00000506943.1:p.Asn1087LysfsTer4 | |
| ENST00000682477.1:c.*2686dup | ENSP00000507075.1:n.*2686dup | |
| ENST00000682589.1:n.9137dup | ||
| ENST00000682755.1:c.3038dup | ENSP00000507660.1:p.Asn1013LysfsTer4 | |
| ENST00000682989.1:c.*351dup | ENSP00000507786.1:n.*351dup | |
| ENST00000683039.1:c.3260dup | ENSP00000508303.1:p.Asn1087LysfsTer4 | |
| ENST00000683235.1:c.*675dup | ENSP00000507646.1:n.*675dup | |
| ENST00000683535.1:n.1390dup | ||
| ENST00000684584.1:c.2423dup | ENSP00000508044.1:p.Asn808LysfsTer4 | |
| ENST00000684626.1:n.1506dup | ||
| ENST00000684769.1:c.1450dup | ENSP00000507691.1:n.1450dup | |
| ENST00000259008.7:c.3260dup MANE Select | ENSP00000259008.2:p.Asn1087LysfsTer4 | |
| ENST00000259008.6:c.3260dup | ENSP00000259008.2:p.Asn1087LysfsTer4 | |
| NM_032043.2:c.3260dup , LRG_300t1:c.3260dup | NP_114432.2:p.Asn1087LysfsTer4 | |
| XM_011525332.1:c.3320dup | XP_011523634.1:p.Asn1107LysfsTer4 | |
| XM_011525333.1:c.3320dup | XP_011523635.1:p.Asn1107LysfsTer4 | |
| XM_011525334.1:c.3320dup | XP_011523636.1:p.Asn1107LysfsTer4 | |
| XM_011525335.1:c.3260dup | XP_011523637.1:p.Asn1087LysfsTer4 | |
| XM_011525336.1:c.3200dup | XP_011523638.1:p.Asn1067LysfsTer4 | |
| XM_011525337.1:c.3119dup | XP_011523639.1:p.Asn1040LysfsTer4 | |
| XM_011525338.1:c.2837dup | XP_011523640.1:p.Asn946LysfsTer4 | |
| XM_011525332.3:c.3320dup | XP_011523634.1:p.Asn1107LysfsTer4 | |
| XM_011525333.3:c.3320dup | XP_011523635.1:p.Asn1107LysfsTer4 | |
| XM_011525334.2:c.3320dup | XP_011523636.1:p.Asn1107LysfsTer4 | |
| XM_011525335.3:c.3260dup | XP_011523637.1:p.Asn1087LysfsTer4 | |
| XM_011525336.2:c.3200dup | XP_011523638.1:p.Asn1067LysfsTer4 | |
| XM_011525337.2:c.3119dup | XP_011523639.1:p.Asn1040LysfsTer4 | |
| XM_011525338.2:c.2837dup | XP_011523640.1:p.Asn946LysfsTer4 | |
| XM_017025200.1:c.2777dup | XP_016880689.1:p.Asn926LysfsTer4 | |
| XM_017025201.1:c.2777dup | XP_016880690.1:p.Asn926LysfsTer4 | |
| XM_017025202.1:c.1406dup | XP_016880691.1:p.Asn469LysfsTer4 | |
| XM_017025203.1:c.1406dup | XP_016880692.1:p.Asn469LysfsTer4 | |
| NM_032043.3:c.3260dup MANE Select | NP_114432.2:p.Asn1087LysfsTer4 |