Linked Data
ClinVar Variation Id:
302370
ClinVar RCV Id:
RCV000383905
dbSNP Id:
rs371625196
gnomAD v2:
11-111653680-CCTGT-C
gnomAD v3:
11-111782956-CCTGT-C
gnomAD v4:
11-111782956-CCTGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.111782959_111782962del , CM000673.2:g.111782959_111782962del | GRCh38 |
| NC_000011.9:g.111653683_111653686del , CM000673.1:g.111653683_111653686del | GRCh37 |
| NC_000011.8:g.111158893_111158896del | NCBI36 |
| NG_009210.1:g.93621_93624del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000616540.5:c.*3437_*3440del MANE Select | ENSP00000482437.1:n.*3437_*3440del | |
| ENST00000532425.6:c.3720_3723del | ||
| NM_001077690.1:c.*3437_*3440del | NP_001071158.1:n.*3437_*3440del | |
| NM_001077691.1:c.*3437_*3440del | NP_001071159.1:n.*3437_*3440del | |
| NM_001077692.1:c.*3437_*3440del | NP_001071160.1:n.*3437_*3440del | |
| NM_024740.2:c.*3437_*3440del MANE Select | NP_079016.2:n.*3437_*3440del | |
| NM_001352409.1:c.*3437_*3440del | NP_001339338.1:n.*3437_*3440del | |
| NM_001352410.1:c.*3437_*3440del | NP_001339339.1:n.*3437_*3440del | |
| NM_001352411.1:c.*3437_*3440del | NP_001339340.1:n.*3437_*3440del | |
| NM_001352412.1:c.*3437_*3440del | NP_001339341.1:n.*3437_*3440del | |
| NM_001352413.1:c.*3437_*3440del | NP_001339342.1:n.*3437_*3440del | |
| NM_001352414.1:c.*3437_*3440del | NP_001339343.1:n.*3437_*3440del | |
| NM_001352415.1:c.*3097_*3100del | NP_001339344.1:n.*3097_*3100del | |
| NM_001352416.1:c.*3097_*3100del | NP_001339345.1:n.*3097_*3100del | |
| NM_001352417.1:c.*3097_*3100del | NP_001339346.1:n.*3097_*3100del | |
| NM_001352418.1:c.*3437_*3440del | NP_001339347.1:n.*3437_*3440del | |
| NM_001352419.1:c.*3097_*3100del | NP_001339348.1:n.*3097_*3100del | |
| NM_001352420.1:c.*3566_*3569del | NP_001339349.1:n.*3566_*3569del | |
| NM_001352421.1:c.*3560_*3563del | NP_001339350.1:n.*3560_*3563del | |
| NM_001352422.1:c.*3437_*3440del | NP_001339351.1:n.*3437_*3440del | |
| NM_001352423.1:c.*3437_*3440del | NP_001339352.1:n.*3437_*3440del | |
| NR_147984.1:n.5892_5895del | ||
| XM_005277723.5:c.*3097_*3100del | XP_005277780.1:n.*3097_*3100del | |
| XM_017018314.2:c.*3437_*3440del | XP_016873803.1:n.*3437_*3440del | |
| XR_001747967.2:n.2246+2829_2246+2832del | ||
| XR_001747968.2:n.2225+2829_2225+2832del | ||
| XR_001747969.2:n.2123+2829_2123+2832del | ||
| XR_001747971.1:n.2554+2829_2554+2832del | ||
| XR_001747972.1:n.2558+2829_2558+2832del | ||
| XR_001747973.1:n.2261+2829_2261+2832del | ||
| XR_001747974.1:n.2374+2829_2374+2832del | ||
| XR_001747975.1:n.2533+2829_2533+2832del | ||
| XR_001747976.1:n.2537+2829_2537+2832del | ||
| XR_001747977.1:n.1710+2829_1710+2832del | ||
| NM_001077691.2:c.*3437_*3440del | NP_001071159.1:n.*3437_*3440del | |
| NM_001077692.2:c.*3437_*3440del | NP_001071160.1:n.*3437_*3440del | |
| NM_001352411.2:c.*3437_*3440del | NP_001339340.1:n.*3437_*3440del | |
| NM_001352412.2:c.*3437_*3440del | NP_001339341.1:n.*3437_*3440del | |
| NM_001352414.2:c.*3437_*3440del | NP_001339343.1:n.*3437_*3440del | |
| NM_001352420.2:c.*3566_*3569del | NP_001339349.1:n.*3566_*3569del | |
| NM_001352421.2:c.*3560_*3563del | NP_001339350.1:n.*3560_*3563del | |
| NM_001352422.2:c.*3437_*3440del | NP_001339351.1:n.*3437_*3440del | |
| NM_001352423.2:c.*3437_*3440del | NP_001339352.1:n.*3437_*3440del | |
| NR_147984.2:n.5912_5915del |