Linked Data
dbSNP Id:
rs749153715
ExAC:
12:32793199 CT / C
gnomAD v2:
12-32793199-CT-C
gnomAD v4:
12-32640265-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32640269del , CM000674.2:g.32640269del | GRCh38 |
| NC_000012.11:g.32793203del , CM000674.1:g.32793203del | GRCh37 |
| NC_000012.10:g.32684470del | NCBI36 |
| NG_008626.2:g.245741del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427716.7:c.2044-7del | ENSP00000394487.2:n.2044-7del | |
| ENST00000531134.7:c.2299-7del | ENSP00000431323.1:n.2299-7del | |
| ENST00000583694.2:c.2044-7del | ENSP00000462623.2:n.2044-7del | |
| ENST00000682739.1:c.1765-7del | ENSP00000507616.1:n.1765-7del | |
| ENST00000683182.1:c.856-7del | ENSP00000507831.1:n.856-7del | |
| ENST00000684033.1:n.842-7del | ||
| ENST00000525053.6:c.2044-7del | ENSP00000433666.2:n.2044-7del | |
| ENST00000531134.6:c.2299-7del | ENSP00000431323.1:n.2299-7del | |
| ENST00000534526.7:c.2455-7del MANE Select | ENSP00000449273.1:n.2455-7del | |
| ENST00000427716.6:c.2044-7del | ENSP00000394487.2:n.2044-7del | |
| ENST00000493087.5:c.*1455-7del | ENSP00000437109.1:n.*1455-7del | |
| ENST00000494977.1:c.1932-7del | ||
| ENST00000525053.5:c.2380-7del | ENSP00000433666.1:n.2380-7del | |
| ENST00000531134.5:c.2299-7del | ENSP00000431323.1:n.2299-7del | |
| ENST00000534526.6:c.2455-7del | ENSP00000449273.1:n.2455-7del | |
| ENST00000546442.5:c.1765-7del | ENSP00000446695.1:n.1765-7del | |
| ENST00000551984.5:c.*1413-7del | ENSP00000449614.1:n.*1413-7del | |
| NM_001304480.1:c.2380-7del | NP_001291409.1:n.2380-7del | |
| NM_001304481.1:c.2299-7del | NP_001291410.1:n.2299-7del | |
| NM_001304484.1:c.1012-7del | NP_001291413.1:n.1012-7del | |
| NM_139241.3:c.2044-7del | NP_640334.2:n.2044-7del | |
| XM_005253304.3:c.2536-7del | XP_005253361.1:n.2536-7del | |
| XM_005253307.2:c.1765-7del | XP_005253364.1:n.1765-7del | |
| XM_005253308.3:c.1765-7del | XP_005253365.1:n.1765-7del | |
| XM_005253309.1:c.1765-7del | XP_005253366.1:n.1765-7del | |
| XM_005253310.3:c.1300-7del | XP_005253367.1:n.1300-7del | |
| XM_011520554.1:c.2338-7del | XP_011518856.1:n.2338-7del | |
| XM_011520555.1:c.2044-7del | XP_011518857.1:n.2044-7del | |
| XM_011520556.1:c.2044-7del | XP_011518858.1:n.2044-7del | |
| XM_011520557.1:c.1492-7del | XP_011518859.1:n.1492-7del | |
| XM_011520558.1:c.1447-7del | XP_011518860.1:n.1447-7del | |
| XM_011520559.1:c.1279-7del | XP_011518861.1:n.1279-7del | |
| NM_001330373.1:c.1765-7del | NP_001317302.1:n.1765-7del | |
| NM_001330374.1:c.1765-7del | NP_001317303.1:n.1765-7del | |
| XM_005253304.4:c.2536-7del | XP_005253361.1:n.2536-7del | |
| XM_005253308.5:c.1765-7del | XP_005253365.1:n.1765-7del | |
| XM_005253310.4:c.1300-7del | XP_005253367.1:n.1300-7del | |
| XM_011520558.2:c.1447-7del | XP_011518860.1:n.1447-7del | |
| XM_011520559.3:c.1279-7del | XP_011518861.1:n.1279-7del | |
| XM_017018803.1:c.2536-7del | XP_016874292.1:n.2536-7del | |
| XM_017018805.1:c.1492-7del | XP_016874294.1:n.1492-7del | |
| XM_024448837.1:c.1765-7del | XP_024304605.1:n.1765-7del | |
| XM_024448838.1:c.1765-7del | XP_024304606.1:n.1765-7del | |
| XM_024448839.1:c.1765-7del | XP_024304607.1:n.1765-7del | |
| XM_024448840.1:c.1153-7del | XP_024304608.1:n.1153-7del | |
| NM_001370297.1:c.1492-7del | NP_001357226.1:n.1492-7del | |
| NM_001370298.1:c.2536-7del | NP_001357227.1:n.2536-7del | |
| NM_001304484.2:c.1012-7del | NP_001291413.1:n.1012-7del | |
| NM_001330373.2:c.1765-7del | NP_001317302.1:n.1765-7del | |
| NM_001330374.2:c.1765-7del | NP_001317303.1:n.1765-7del | |
| NM_001370298.3:c.2455-7del MANE Select | NP_001357227.2:n.2455-7del | |
| NM_001384126.1:c.2455-7del | NP_001371055.1:n.2455-7del | |
| NM_001384127.1:c.2044-7del | NP_001371056.1:n.2044-7del | |
| NM_001384128.1:c.2044-7del | NP_001371057.1:n.2044-7del | |
| NM_001384130.1:c.1765-7del | NP_001371059.1:n.1765-7del | |
| NM_001385118.1:c.2044-7del | NP_001372047.1:n.2044-7del |