Linked Data
dbSNP Id:
rs1270823103
gnomAD v2:
19-38993261-ATCATGGTGGACTC-A
gnomAD v3:
19-38502621-ATCATGGTGGACTC-A
gnomAD v4:
19-38502621-ATCATGGTGGACTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38502623_38502635del , CM000681.2:g.38502623_38502635del | GRCh38 |
| NC_000019.9:g.38993263_38993275del , CM000681.1:g.38993263_38993275del | GRCh37 |
| NC_000019.8:g.43685103_43685115del | NCBI36 |
| NG_008866.1:g.73924_73936del , LRG_766:g.73924_73936del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.7731_7743del | ENSP00000471601.2:p.Met2578CysfsTer? | |
| ENST00000359596.8:c.7731_7743del MANE Select | ENSP00000352608.2:p.Met2578CysfsTer? | |
| ENST00000355481.8:c.7731_7743del | ENSP00000347667.3:p.Met2578CysfsTer? | |
| ENST00000359596.7:c.7731_7743del | ENSP00000352608.2:p.Met2578CysfsTer? | |
| ENST00000360985.7:c.7728_7740del | ENSP00000354254.4:p.Met2577CysfsTer? | |
| ENST00000594335.5:c.1183_1195del | ||
| NM_000540.2:c.7731_7743del , LRG_766t1:c.7731_7743del | NP_000531.2:p.Met2578CysfsTer? | |
| NM_001042723.1:c.7731_7743del | NP_001036188.1:p.Met2578CysfsTer? | |
| XM_006723317.1:c.7731_7743del | XP_006723380.1:p.Met2578CysfsTer? | |
| XM_006723319.1:c.7731_7743del | XP_006723382.1:p.Met2578CysfsTer? | |
| XM_011527204.1:c.7728_7740del | XP_011525506.1:p.Met2577CysfsTer? | |
| XM_011527205.1:c.7731_7743del | XP_011525507.1:p.Met2578CysfsTer? | |
| XM_006723317.2:c.7731_7743del | XP_006723380.1:p.Met2578CysfsTer? | |
| XM_006723319.2:c.7731_7743del | XP_006723382.1:p.Met2578CysfsTer? | |
| XM_011527205.2:c.7731_7743del | XP_011525507.1:p.Met2578CysfsTer? | |
| XR_001753735.1:n.7814_7826del | ||
| NM_000540.3:c.7731_7743del MANE Select | NP_000531.2:p.Met2578CysfsTer? | |
| NM_001042723.2:c.7731_7743del | NP_001036188.1:p.Met2578CysfsTer? |