Linked Data
ClinVar Variation Id:
203815
dbSNP Id:
rs796051993
ExAC:
4:146567164 ATGAC / A
gnomAD v2:
4-146567164-ATGAC-A
gnomAD v3:
4-145646012-ATGAC-A
gnomAD v4:
4-145646012-ATGAC-A
MyVariant Identifiers:
chr4:g.146567168_146567171del (hg19)
chr4:g.146567165_146567168del (hg19)
chr4:g.145646016_145646019del (hg38)
chr4:g.145646013_145646016del (hg38)
PubMed:
PMID:20301409
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.145646016_145646019del , CM000666.2:g.145646016_145646019del | GRCh38 |
| NC_000004.11:g.146567168_146567171del , CM000666.1:g.146567168_146567171del | GRCh37 |
| NC_000004.10:g.146786618_146786621del | NCBI36 |
| NG_007536.1:g.31719_31722del | |
| NG_007536.2:g.51975_51978del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000541599.5:c.593_596del | ENSP00000442284.3:p.Thr198SerfsTer6 | |
| ENST00000647947.1:c.*377_*380del | ENSP00000496781.1:n.*377_*380del | |
| ENST00000648388.1:c.593_596del | ENSP00000497046.1:p.Thr198SerfsTer6 | |
| ENST00000649156.2:c.593_596del MANE Select | ENSP00000497008.1:p.Thr198SerfsTer6 | |
| ENST00000649173.1:c.593_596del | ENSP00000497871.1:p.Thr198SerfsTer6 | |
| ENST00000649704.1:c.593_596del | ENSP00000497680.1:p.Thr198SerfsTer6 | |
| ENST00000679563.1:c.593_596del | ENSP00000506503.1:p.Thr198SerfsTer6 | |
| ENST00000679930.1:c.*112_*115del | ENSP00000506293.1:n.*112_*115del | |
| ENST00000281317.9:c.593_596del | ENSP00000281317.5:p.Thr198SerfsTer6 | |
| ENST00000506919.1:n.1081_1084del | ||
| ENST00000511969.4:c.593_596del | ENSP00000427422.1:p.Thr198SerfsTer6 | |
| ENST00000541599.4:c.593_596del | ENSP00000442284.2:p.Thr198SerfsTer6 | |
| NM_172250.2:c.593_596del | NP_758454.1:p.Thr198SerfsTer6 | |
| XM_011531684.1:c.593_596del | XP_011529986.1:p.Thr198SerfsTer6 | |
| XM_011531685.1:c.593_596del | XP_011529987.1:p.Thr198SerfsTer6 | |
| XM_011531686.1:c.98_101del | XP_011529988.1:p.Thr33SerfsTer6 | |
| NM_172250.3:c.593_596del MANE Select | NP_758454.1:p.Thr198SerfsTer6 | |
| XM_011531684.3:c.593_596del | XP_011529986.1:p.Thr198SerfsTer6 | |
| XM_011531685.2:c.593_596del | XP_011529987.1:p.Thr198SerfsTer6 | |
| XM_011531686.2:c.98_101del | XP_011529988.1:p.Thr33SerfsTer6 | |
| NM_001375644.1:c.593_596del | NP_001362573.1:p.Thr198SerfsTer6 |