Linked Data
ClinVar Variation Id:
191315
ClinVar RCV Id:
RCV000171507
dbSNP Id:
rs786205641
gnomAD v4:
2-237527481-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237527483del , CM000664.2:g.237527483del | GRCh38 |
| NC_000002.11:g.238436126del , CM000664.1:g.238436126del | GRCh37 |
| NC_000002.10:g.238100865del | NCBI36 |
| NG_007286.1:g.45197del , LRG_83:g.45197del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264605.8:c.987del MANE Select | ENSP00000264605.3:p.Lys330SerfsTer15 | |
| ENST00000264605.7:c.987del | ENSP00000264605.3:p.Lys330SerfsTer15 | |
| ENST00000338530.8:c.987del | ENSP00000341845.4:p.Lys330SerfsTer13 | |
| ENST00000409373.5:c.867del | ENSP00000386780.1:p.Lys290SerfsTer13 | |
| ENST00000410032.5:c.675+7454del | ENSP00000386338.1:n.675+7454del | |
| ENST00000415753.5:c.49del | ||
| ENST00000436965.5:c.233del | ||
| ENST00000437893.5:c.300+1678del | ENSP00000412438.1:n.300+1678del | |
| ENST00000464123.5:n.1052del | ||
| ENST00000468178.5:n.1198del | ||
| ENST00000478712.5:n.666del | ||
| ENST00000482528.1:n.239del | ||
| ENST00000485956.1:n.363del | ||
| ENST00000494110.5:n.667del | ||
| ENST00000495439.5:n.1364del | ||
| NM_001042467.2:c.987del | NP_001035932.1:p.Lys330SerfsTer13 | |
| NM_001281473.1:c.867del | NP_001268402.1:p.Lys290SerfsTer13 | |
| NM_001281474.1:c.675+7454del | NP_001268403.1:n.675+7454del | |
| NM_024101.6:c.987del | NP_077006.1:p.Lys330SerfsTer15 | |
| NR_104019.1:n.1230del | ||
| XM_006712737.1:c.867del | XP_006712800.1:p.Lys290SerfsTer15 | |
| XM_006712739.1:c.987del | XP_006712802.1:p.Lys330SerfsTer15 | |
| XM_006712740.1:c.867del | XP_006712803.1:p.Lys290SerfsTer13 | |
| XM_011511811.1:c.987del | XP_011510113.1:p.Lys330SerfsTer15 | |
| XM_011511812.1:c.552del | XP_011510114.1:p.Lys185SerfsTer15 | |
| XR_923025.1:n.1198del | ||
| XM_017004893.1:c.987del | XP_016860382.1:p.Lys330SerfsTer15 | |
| XM_017004894.2:c.987del | XP_016860383.1:p.Lys330SerfsTer13 | |
| NM_024101.7:c.987del MANE Select | NP_077006.1:p.Lys330SerfsTer15 | |
| NM_001042467.3:c.987del | NP_001035932.1:p.Lys330SerfsTer13 | |
| NM_001281473.2:c.867del | NP_001268402.1:p.Lys290SerfsTer13 | |
| NM_001281474.2:c.675+7454del | NP_001268403.1:n.675+7454del | |
| NR_104019.2:n.1198del |