dbSNP:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000503 (AFR)
Genomes Max Group AF
0.000008 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68199270_68199273del , CM000672.2:g.68199270_68199273del | GRCh38 |
| NC_000010.10:g.69959027_69959030del , CM000672.1:g.69959027_69959030del | GRCh37 |
| NC_000010.9:g.69629033_69629036del | NCBI36 |
| NG_032118.1:g.98154_98157del , LRG_410:g.98154_98157del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354393.7:c.2461-98_2461-95del | ENSP00000346369.2:n.2461-98_2461-95del | |
| ENST00000540630.6:c.3340-98_3340-95del | ENSP00000441668.3:n.3340-98_3340-95del | |
| ENST00000613327.5:c.3286-98_3286-95del | ENSP00000480757.2:n.3286-98_3286-95del | |
| ENST00000688812.1:c.*549-98_*549-95del | ENSP00000510658.1:n.*549-98_*549-95del | |
| ENST00000690544.1:c.*2557-98_*2557-95del | ENSP00000508989.1:n.*2557-98_*2557-95del | |
| ENST00000358913.10:c.3286-98_3286-95del MANE Select | ENSP00000351790.5:n.3286-98_3286-95del | |
| ENST00000354393.6:c.2461-98_2461-95del | ENSP00000346369.2:n.2461-98_2461-95del | |
| ENST00000358913.9:c.3286-98_3286-95del | ENSP00000351790.5:n.3286-98_3286-95del | |
| ENST00000540630.5:c.3286-98_3286-95del | ENSP00000441668.2:n.3286-98_3286-95del | |
| ENST00000613327.4:c.2404-98_2404-95del | ENSP00000480757.1:n.2404-98_2404-95del | |
| NM_001256267.1:c.3286-98_3286-95del | NP_001243196.1:n.3286-98_3286-95del | |
| NM_001256268.1:c.2404-98_2404-95del | NP_001243197.1:n.2404-98_2404-95del | |
| NM_032578.3:c.3286-98_3286-95del , LRG_410t1:c.3286-98_3286-95del | NP_115967.2:n.3286-98_3286-95del | |
| NR_045662.3:n.2713-98_2713-95del | ||
| NR_045663.3:n.3415-98_3415-95del | ||
| XM_006718043.2:c.3340-98_3340-95del | XP_006718106.1:n.3340-98_3340-95del | |
| XM_011540292.1:c.3316-98_3316-95del | XP_011538594.1:n.3316-98_3316-95del | |
| XR_946029.1:n.1808_1811del | ||
| XM_017016833.1:c.3364-98_3364-95del | XP_016872322.1:n.3364-98_3364-95del | |
| XM_017016834.2:c.3286-98_3286-95del | XP_016872323.1:n.3286-98_3286-95del | |
| XM_024448236.1:c.2164-98_2164-95del | XP_024304004.1:n.2164-98_2164-95del | |
| NR_045662.4:n.2823-98_2823-95del | ||
| NR_045663.4:n.3360-98_3360-95del | ||
| NM_001256267.2:c.3286-98_3286-95del | NP_001243196.1:n.3286-98_3286-95del | |
| NM_001256268.2:c.2404-98_2404-95del | NP_001243197.1:n.2404-98_2404-95del | |
| NM_032578.4:c.3286-98_3286-95del MANE Select | NP_115967.2:n.3286-98_3286-95del |