Linked Data
ClinVar Variation Id:
427638
ClinVar RCV Id:
RCV000611237
dbSNP Id:
rs1554493617
gnomAD v4:
7-155803006-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155803011del , CM000669.2:g.155803011del | GRCh38 |
| NC_000007.13:g.155595705del , CM000669.1:g.155595705del | GRCh37 |
| NC_000007.12:g.155288466del | NCBI36 |
| NG_007504.2:g.14267del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297261.7:c.1282del MANE Select | ENSP00000297261.2:p.Ala428ProfsTer15 | |
| ENST00000297261.6:c.1282del | ENSP00000297261.2:p.Ala428ProfsTer15 | |
| ENST00000430104.5:c.302-2762del | ENSP00000396621.1:n.302-2762del | |
| ENST00000435425.1:c.302-2410del | ENSP00000413871.1:n.302-2410del | |
| ENST00000441114.5:c.302-2340del | ENSP00000410546.1:n.302-2340del | |
| NM_000193.2:c.1282del | NP_000184.1:p.Ala428ProfsTer15 | |
| NM_000193.3:c.1282del | NP_000184.1:p.Ala428ProfsTer15 | |
| NM_001310462.1:c.302-2762del | NP_001297391.1:n.302-2762del | |
| NR_132318.1:n.472-2340del | ||
| NR_132319.1:n.472-2410del | ||
| XM_011516479.1:c.1021del | XP_011514781.1:p.Ala341ProfsTer15 | |
| XM_011516480.1:c.1021del | XP_011514782.1:p.Ala341ProfsTer15 | |
| XM_011516481.1:c.1021del | XP_011514783.1:p.Ala341ProfsTer15 | |
| XM_011516482.1:c.943del | XP_011514784.1:p.Ala315ProfsTer15 | |
| XM_011516479.2:c.1021del | XP_011514781.1:p.Ala341ProfsTer15 | |
| XM_011516480.2:c.1021del | XP_011514782.1:p.Ala341ProfsTer15 | |
| NM_000193.4:c.1282del MANE Select | NP_000184.1:p.Ala428ProfsTer15 | |
| NM_001310462.2:c.302-2762del | NP_001297391.1:n.302-2762del | |
| NR_132318.2:n.563-2340del | ||
| NR_132319.2:n.563-2410del |