Linked Data
ClinVar Variation Id:
7830
dbSNP Id:
rs606231169
PubMed:
PMID:9371490
ERepo:
CA000566/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87957979_87957983del , CM000672.2:g.87957979_87957983del | GRCh38 |
| NC_000010.10:g.89717736_89717740del , CM000672.1:g.89717736_89717740del | GRCh37 |
| NC_000010.9:g.89707716_89707720del | NCBI36 |
| NG_007466.2:g.99541_99545del , LRG_311:g.99541_99545del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.761_765del | ENSP00000514759.2:p.Lys254ArgfsTer? | |
| ENST00000710265.1:c.761_765del | ENSP00000518161.1:p.Lys254ArgfsTer? | |
| ENST00000472832.3:c.761_765del | ENSP00000483066.2:p.Lys254ArgfsTer? | |
| ENST00000688158.2:n.1496_1500del | ||
| ENST00000688922.2:c.*591_*595del | ENSP00000508742.2:n.*591_*595del | |
| ENST00000700021.1:c.716_720del | ENSP00000514757.1:p.Lys239ArgfsTer? | |
| ENST00000700022.1:c.*100_*104del | ENSP00000514758.1:n.*100_*104del | |
| ENST00000700023.1:n.1919_1923del | ||
| ENST00000700024.1:n.2153_2157del | ||
| ENST00000700025.1:n.1530_1534del | ||
| ENST00000700026.1:n.398_402del | ||
| ENST00000700029.1:c.595_599del | ||
| ENST00000706954.1:c.761_765del | ENSP00000516674.1:p.Lys254ArgfsTer? | |
| ENST00000706955.1:c.*796_*800del | ENSP00000516675.1:n.*796_*800del | |
| ENST00000686459.1:c.*347_*351del | ENSP00000508909.1:n.*347_*351del | |
| ENST00000688158.1:c.*872_*876del | ENSP00000509254.1:n.*872_*876del | |
| ENST00000688308.1:c.761_765del | ENSP00000508752.1:p.Lys254ArgfsTer? | |
| ENST00000688922.1:c.682_686del | ||
| ENST00000693560.1:c.1280_1284del | ENSP00000509861.1:p.Lys427ArgfsTer? | |
| ENST00000371953.8:c.761_765del MANE Select | ENSP00000361021.3:p.Lys254ArgfsTer? | |
| ENST00000371953.7:c.761_765del | ENSP00000361021.3:p.Lys254ArgfsTer? | |
| ENST00000472832.2:c.188_192del | ENSP00000483066.1:p.Lys63ArgfsTer? | |
| NM_000314.5:c.761_765del | NP_000305.3:p.Lys254ArgfsTer? | |
| NM_000314.6:c.761_765del | NP_000305.3:p.Lys254ArgfsTer? | |
| NM_001304717.2:c.1280_1284del | NP_001291646.2:p.Lys427ArgfsTer? | |
| NM_001304718.1:c.170_174del | NP_001291647.1:p.Lys57ArgfsTer? | |
| XM_006717926.2:c.716_720del | XP_006717989.1:p.Lys239ArgfsTer? | |
| XM_011539981.1:c.761_765del | XP_011538283.1:p.Lys254ArgfsTer? | |
| XM_011539982.1:c.665_669del | XP_011538284.1:p.Lys222ArgfsTer? | |
| XR_945791.1:n.1331_1335del | ||
| NM_000314.7:c.761_765del | NP_000305.3:p.Lys254ArgfsTer? | |
| NM_001304717.5:c.1280_1284del | NP_001291646.4:p.Lys427ArgfsTer? | |
| NM_001304718.2:c.170_174del | NP_001291647.1:p.Lys57ArgfsTer? | |
| NM_000314.8:c.761_765del MANE Select | NP_000305.3:p.Lys254ArgfsTer? |