Linked Data
ClinVar Variation Id:
553122
ClinVar RCV Id:
RCV000668503
dbSNP Id:
rs758358436
ExAC:
9:100437781 ATCT / A
gnomAD v2:
9-100437781-ATCT-A
gnomAD v3:
9-97675499-ATCT-A
gnomAD v4:
9-97675499-ATCT-A
COSMIC:
COSM5083716
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97675503_97675505del , CM000671.2:g.97675503_97675505del | GRCh38 |
| NC_000009.11:g.100437785_100437787del , CM000671.1:g.100437785_100437787del | GRCh37 |
| NC_000009.10:g.99477606_99477608del | NCBI36 |
| NG_011642.1:g.26908_26910del , LRG_471:g.26908_26910del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375128.5:c.759_761del MANE Select | ENSP00000364270.5:p.Glu253del | |
| ENST00000375128.4:c.759_761del | ENSP00000364270.4:p.Glu253del | |
| ENST00000462523.5:c.*195_*197del | ENSP00000433006.1:n.*195_*197del | |
| ENST00000485042.1:n.271_273del | ||
| NM_000380.3:c.759_761del , LRG_471t1:c.759_761del | NP_000371.1:p.Glu253del | |
| NR_027302.1:n.1107_1109del | ||
| XM_006717278.1:c.759_761del | XP_006717341.1:p.Glu253del | |
| XM_011518988.1:c.759_761del | XP_011517290.1:p.Glu253del | |
| XR_929839.1:n.1290_1292del | ||
| NM_001354975.1:c.633_635del | NP_001341904.1:p.Glu211del | |
| NR_149091.1:n.604_606del | ||
| NR_149092.1:n.770_772del | ||
| NR_149093.1:n.1296_1298del | ||
| NR_149094.1:n.1190_1192del | ||
| NM_000380.4:c.759_761del MANE Select | NP_000371.1:p.Glu253del | |
| NM_001354975.2:c.633_635del | NP_001341904.1:p.Glu211del | |
| NR_027302.2:n.1038_1040del | ||
| NR_149091.2:n.535_537del | ||
| NR_149092.2:n.701_703del | ||
| NR_149093.2:n.1227_1229del | ||
| NR_149094.2:n.1121_1123del |