Linked Data
ClinVar Variation Id:
17674
ClinVar RCV Id:
RCV000019243
RCV000048431
RCV000131887
RCV000159924
RCV000238776
RCV000476410
RCV000735453
RCV001353670
RCV002490392
dbSNP Id:
rs80357508
ExAC:
17:41243479 CTTGA / C
gnomAD v2:
17-41243479-CTTGA-C
gnomAD v3:
17-43091462-CTTGA-C
gnomAD v4:
17-43091462-CTTGA-C
PubMed:
PMID:3405339
PMID:3893336
PMID:7837387
PMID:7894492
PMID:7894493
PMID:8531967
PMID:8571953
PMID:9150148
PMID:9649133
PMID:10699917
PMID:11802209
PMID:12402332
PMID:12698193
PMID:14757871
PMID:16455195
PMID:17018160
PMID:17100994
PMID:20104584
PMID:21324516
PMID:21559243
PMID:21702907
PMID:23175448
PMID:23519070
PMID:23633455
PMID:23683081
PMID:24504028
PMID:24549055
PMID:24556621
PMID:26295337
PMID:27553291
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43091465_43091468del , CM000679.2:g.43091465_43091468del | GRCh38 |
| NC_000017.10:g.41243482_41243485del , CM000679.1:g.41243482_41243485del | GRCh37 |
| NC_000017.9:g.38497008_38497011del | NCBI36 |
| NG_005905.2:g.126518_126521del , LRG_292:g.126518_126521del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.4129_4132del | ||
| ENST00000461574.2:c.4065_4068del | ENSP00000417241.2:p.Asn1355LysfsTer10 | |
| ENST00000470026.6:c.4065_4068del | ENSP00000419274.2:p.Asn1355LysfsTer10 | |
| ENST00000473961.6:c.3939_3942del | ENSP00000420201.2:p.Asn1313LysfsTer10 | |
| ENST00000476777.6:c.4062_4065del | ENSP00000417554.2:p.Asn1354LysfsTer10 | |
| ENST00000477152.6:c.3987_3990del | ENSP00000419988.2:p.Asn1329LysfsTer10 | |
| ENST00000478531.6:c.785-434_785-431del | ENSP00000420412.2:n.785-434_785-431del | |
| ENST00000489037.2:c.3987_3990del | ENSP00000420781.2:p.Asn1329LysfsTer10 | |
| ENST00000493919.6:c.647-434_647-431del | ENSP00000418819.2:n.647-434_647-431del | |
| ENST00000494123.6:c.4065_4068del | ENSP00000419103.2:p.Asn1355LysfsTer10 | |
| ENST00000497488.2:c.3177_3180del | ENSP00000418986.2:p.Asn1059LysfsTer10 | |
| ENST00000618469.2:c.4065_4068del | ENSP00000478114.2:p.Asn1355LysfsTer10 | |
| ENST00000634433.2:c.3942_3945del | ENSP00000489431.2:p.Asn1314LysfsTer10 | |
| ENST00000644379.2:c.4065_4068del | ENSP00000496570.2:p.Asn1355LysfsTer10 | |
| ENST00000644555.2:c.647-434_647-431del | ENSP00000494614.2:n.647-434_647-431del | |
| ENST00000652672.2:c.3924_3927del | ENSP00000498906.2:p.Asn1308LysfsTer10 | |
| ENST00000484087.6:c.665-434_665-431del | ENSP00000419481.2:n.665-434_665-431del | |
| ENST00000700182.1:c.707-434_707-431del | ENSP00000514849.1:n.707-434_707-431del | |
| ENST00000357654.9:c.4065_4068del MANE Select | ENSP00000350283.3:p.Asn1355LysfsTer10 | |
| ENST00000471181.7:c.4065_4068del | ENSP00000418960.2:p.Asn1355LysfsTer10 | |
| ENST00000644379.1:c.386_389del | ||
| ENST00000352993.7:c.671-434_671-431del | ENSP00000312236.5:n.671-434_671-431del | |
| ENST00000354071.7:c.4065_4068del | ENSP00000326002.7:p.Asn1355LysfsTer10 | |
| ENST00000357654.7:c.4065_4068del | ENSP00000350283.3:p.Asn1355LysfsTer10 | |
| ENST00000461221.5:c.*3848_*3851del | ENSP00000418548.1:n.*3848_*3851del | |
| ENST00000461574.1:c.359_362del | ||
| ENST00000468300.5:c.788-434_788-431del | ENSP00000417148.1:n.788-434_788-431del | |
| ENST00000471181.6:c.4065_4068del | ENSP00000418960.2:p.Asn1355LysfsTer10 | |
| ENST00000478531.5:c.785-434_785-431del | ENSP00000420412.1:n.785-434_785-431del | |
| ENST00000484087.5:c.410-434_410-431del | ENSP00000419481.1:n.410-434_410-431del | |
| ENST00000487825.5:c.413-434_413-431del | ENSP00000418212.1:n.413-434_413-431del | |
| ENST00000491747.6:c.788-434_788-431del | ENSP00000420705.2:n.788-434_788-431del | |
| ENST00000493795.5:c.3924_3927del | ENSP00000418775.1:p.Asn1308LysfsTer10 | |
| ENST00000493919.5:c.647-434_647-431del | ENSP00000418819.1:n.647-434_647-431del | |
| ENST00000586385.5:c.5-27515_5-27512del | ENSP00000465818.1:n.5-27515_5-27512del | |
| ENST00000591534.5:c.-43-16945_-43-16942del | ENSP00000467329.1:n.-43-16945_-43-16942de... | |
| ENST00000591849.5:c.-99+33805_-99+33808del | ENSP00000465347.1:n.-99+33805_-99+33808de... | |
| NM_007294.3:c.4065_4068del , LRG_292t1:c.4065_4068del | NP_009225.1:p.Asn1355LysfsTer10 | |
| NM_007297.3:c.3924_3927del | NP_009228.2:p.Asn1308LysfsTer10 | |
| NM_007298.3:c.788-434_788-431del | NP_009229.2:n.788-434_788-431del | |
| NM_007299.3:c.788-434_788-431del | NP_009230.2:n.788-434_788-431del | |
| NM_007300.3:c.4065_4068del | NP_009231.2:p.Asn1355LysfsTer10 | |
| NR_027676.1:n.4201_4204del | ||
| NM_007294.4:c.4065_4068del MANE Select | NP_009225.1:p.Asn1355LysfsTer10 | |
| NM_007297.4:c.3924_3927del | NP_009228.2:p.Asn1308LysfsTer10 | |
| NM_007299.4:c.788-434_788-431del | NP_009230.2:n.788-434_788-431del | |
| NM_007300.4:c.4065_4068del | NP_009231.2:p.Asn1355LysfsTer10 | |
| NR_027676.2:n.4242_4245del |