Linked Data
ClinVar Variation Id:
216866
ClinVar RCV Id:
RCV000196480
RCV000492169
RCV000520162
RCV000786037
RCV001002584
RCV001775098
RCV003468912
dbSNP Id:
rs1555535032
gnomAD v3:
17-31338733-CACTT-C
gnomAD v4:
17-31338733-CACTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31338736_31338739del , CM000679.2:g.31338736_31338739del | GRCh38 |
| NC_000017.10:g.29665754_29665757del , CM000679.1:g.29665754_29665757del | GRCh37 |
| NC_000017.9:g.26689880_26689883del | NCBI36 |
| NG_009018.1:g.248760_248763del , LRG_214:g.248760_248763del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.6834_6837del | ENSP00000512431.1:p.Tyr2279ThrfsTer5 | |
| ENST00000684826.1:c.1416_1419del | ENSP00000509994.1:p.Tyr473ThrfsTer5 | |
| ENST00000684998.1:n.2674_2677del | ||
| ENST00000687027.1:c.1008_1011del | ENSP00000508715.1:p.Tyr337ThrfsTer5 | |
| ENST00000687863.1:n.3497_3500del | ||
| ENST00000691014.1:c.6882_6885del | ENSP00000510595.1:p.Tyr2295ThrfsTer5 | |
| ENST00000693617.1:c.1416_1419del | ENSP00000510031.1:p.Tyr473ThrfsTer5 | |
| ENST00000358273.9:c.6852_6855del MANE Select | ENSP00000351015.4:p.Tyr2285ThrfsTer5 | |
| ENST00000356175.7:c.6789_6792del | ENSP00000348498.3:p.Tyr2264ThrfsTer5 | |
| ENST00000358273.8:c.6852_6855del | ENSP00000351015.4:p.Tyr2285ThrfsTer5 | |
| ENST00000456735.6:c.5787_5790del | ENSP00000389907.2:p.Tyr1930ThrfsTer5 | |
| ENST00000471572.6:c.235_238del | ||
| ENST00000579081.5:c.6988_6991del | ENSP00000462408.1:n.6988_6991del | |
| ENST00000581790.5:c.64+856_64+859del | ||
| ENST00000584328.1:n.266_269del | ||
| NM_000267.3:c.6789_6792del , LRG_214t1:c.6789_6792del | NP_000258.1:p.Tyr2264ThrfsTer5 | |
| NM_001042492.2:c.6852_6855del , LRG_214t2:c.6852_6855del | NP_001035957.1:p.Tyr2285ThrfsTer5 | |
| XM_005257983.1:c.6852_6855del | XP_005258040.1:p.Tyr2285ThrfsTer5 | |
| XM_005257984.1:c.6789_6792del | XP_005258041.1:p.Tyr2264ThrfsTer5 | |
| XM_006721922.1:c.6882_6885del | XP_006721985.1:p.Tyr2295ThrfsTer5 | |
| XM_006721923.2:c.6843_6846del | XP_006721986.1:p.Tyr2282ThrfsTer5 | |
| XM_006721924.1:c.6882_6885del | XP_006721987.1:p.Tyr2295ThrfsTer5 | |
| XM_006721925.1:c.6819_6822del | XP_006721988.1:p.Tyr2274ThrfsTer5 | |
| XM_006721926.2:c.6882_6885del | XP_006721989.1:p.Tyr2295ThrfsTer5 | |
| XM_006721927.1:c.6882_6885del | XP_006721990.1:p.Tyr2295ThrfsTer5 | |
| XM_011524852.1:c.6879_6882del | XP_011523154.1:p.Tyr2294ThrfsTer5 | |
| XM_011524853.1:c.6843_6846del | XP_011523155.1:p.Tyr2282ThrfsTer5 | |
| XM_011524854.1:c.6843_6846del | XP_011523156.1:p.Tyr2282ThrfsTer5 | |
| XM_011524855.1:c.6843_6846del | XP_011523157.1:p.Tyr2282ThrfsTer5 | |
| XM_011524856.1:c.6843_6846del | XP_011523158.1:p.Tyr2282ThrfsTer5 | |
| XM_011524857.1:c.6882_6885del | XP_011523159.1:p.Tyr2295ThrfsTer5 | |
| NM_001042492.3:c.6852_6855del MANE Select | NP_001035957.1:p.Tyr2285ThrfsTer5 |