Linked Data
dbSNP Id:
rs1293068025
gnomAD v2:
3-142272251-AAAC-A
gnomAD v3:
3-142553409-AAAC-A
gnomAD v4:
3-142553409-AAAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.142553414_142553416del , CM000665.2:g.142553414_142553416del | GRCh38 |
| NC_000003.11:g.142272256_142272258del , CM000665.1:g.142272256_142272258del | GRCh37 |
| NC_000003.10:g.143754946_143754948del | NCBI36 |
| NG_008951.1:g.30415_30417del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000350721.9:c.2634-14_2634-12del MANE Select | ENSP00000343741.4:n.2634-14_2634-12del | |
| ENST00000515149.3:c.*1408-14_*1408-12del | ENSP00000425897.3:n.*1408-14_*1408-12del | |
| ENST00000653868.1:n.2663-14_2663-12del | ||
| ENST00000656590.1:c.1424-14_1424-12del | ||
| ENST00000659195.1:n.5509-14_5509-12del | ||
| ENST00000661310.1:c.2442-14_2442-12del | ENSP00000499589.1:n.2442-14_2442-12del | |
| ENST00000350721.8:c.2634-14_2634-12del | ENSP00000343741.4:n.2634-14_2634-12del | |
| NM_001184.3:c.2634-14_2634-12del | NP_001175.2:n.2634-14_2634-12del | |
| XM_011512924.1:c.2634-14_2634-12del | XP_011511226.1:n.2634-14_2634-12del | |
| XM_011512925.1:c.2442-14_2442-12del | XP_011511227.1:n.2442-14_2442-12del | |
| XM_011512926.1:c.2634-14_2634-12del | XP_011511228.1:n.2634-14_2634-12del | |
| XM_011512927.1:c.2634-14_2634-12del | XP_011511229.1:n.2634-14_2634-12del | |
| XR_924147.1:n.2723-14_2723-12del | ||
| XR_924148.1:n.2723-14_2723-12del | ||
| XR_924149.1:n.2723-14_2723-12del | ||
| NM_001354579.1:c.2442-14_2442-12del | NP_001341508.1:n.2442-14_2442-12del | |
| XR_001740179.2:n.2723-14_2723-12del | ||
| XR_001740180.2:n.2723-14_2723-12del | ||
| XR_001740181.2:n.2723-14_2723-12del | ||
| XR_001740182.1:n.2723-14_2723-12del | ||
| XR_002959543.1:n.2723-14_2723-12del | ||
| XR_924148.2:n.2723-14_2723-12del | ||
| NM_001184.4:c.2634-14_2634-12del MANE Select | NP_001175.2:n.2634-14_2634-12del | |
| NM_001354579.2:c.2442-14_2442-12del | NP_001341508.1:n.2442-14_2442-12del |