Linked Data
dbSNP Id:
rs1403139376
gnomAD v2:
8-90982572-AAT-A
gnomAD v3:
8-89970344-AAT-A
gnomAD v4:
8-89970344-AAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89970346_89970347del , CM000670.2:g.89970346_89970347del | GRCh38 |
| NC_000008.10:g.90982574_90982575del , CM000670.1:g.90982574_90982575del | GRCh37 |
| NC_000008.9:g.91051750_91051751del | NCBI36 |
| NG_008860.1:g.19326_19327del , LRG_158:g.19326_19327del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494804.2:n.2198+18_2198+19del | ||
| ENST00000517337.2:c.650+18_650+19del | ENSP00000429971.2:n.650+18_650+19del | |
| ENST00000523444.2:c.650+18_650+19del | ENSP00000428252.2:n.650+18_650+19del | |
| ENST00000697292.1:c.896+18_896+19del | ENSP00000513229.1:n.896+18_896+19del | |
| ENST00000697293.1:c.896+18_896+19del | ENSP00000513230.1:n.896+18_896+19del | |
| ENST00000697294.1:c.*507+18_*507+19del | ENSP00000513231.1:n.*507+18_*507+19del | |
| ENST00000697295.1:c.*205+18_*205+19del | ENSP00000513232.1:n.*205+18_*205+19del | |
| ENST00000697296.1:c.*564+18_*564+19del | ENSP00000513233.1:n.*564+18_*564+19del | |
| ENST00000697297.1:n.2681+18_2681+19del | ||
| ENST00000697298.1:c.650+18_650+19del | ENSP00000513234.1:n.650+18_650+19del | |
| ENST00000697299.1:c.650+18_650+19del | ENSP00000513235.1:n.650+18_650+19del | |
| ENST00000697300.1:c.*500+18_*500+19del | ENSP00000513236.1:n.*500+18_*500+19del | |
| ENST00000697301.1:c.*417+18_*417+19del | ENSP00000513237.1:n.*417+18_*417+19del | |
| ENST00000697302.1:c.*417+18_*417+19del | ENSP00000513238.1:n.*417+18_*417+19del | |
| ENST00000697303.1:c.*500+18_*500+19del | ENSP00000513239.1:n.*500+18_*500+19del | |
| ENST00000697304.1:c.585-5839_585-5838del | ENSP00000513240.1:n.585-5839_585-5838del | |
| ENST00000697306.1:c.480+10388_480+10389del | ENSP00000513241.1:n.480+10388_480+10389del | |
| ENST00000697307.1:c.896+18_896+19del | ENSP00000513242.1:n.896+18_896+19del | |
| ENST00000697308.1:c.896+18_896+19del | ENSP00000513243.1:n.896+18_896+19del | |
| ENST00000697309.1:c.896+18_896+19del | ENSP00000513244.1:n.896+18_896+19del | |
| ENST00000697310.1:c.896+18_896+19del | ENSP00000513245.1:n.896+18_896+19del | |
| ENST00000697311.1:c.896+18_896+19del | ENSP00000513246.1:n.896+18_896+19del | |
| ENST00000697312.1:c.*294+18_*294+19del | ENSP00000513247.1:n.*294+18_*294+19del | |
| ENST00000697313.1:n.2687+18_2687+19del | ||
| ENST00000697314.1:n.2687+18_2687+19del | ||
| ENST00000697315.1:c.896+18_896+19del | ENSP00000513248.1:n.896+18_896+19del | |
| ENST00000697316.1:n.1017+18_1017+19del | ||
| ENST00000697317.1:n.1006+18_1006+19del | ||
| ENST00000697318.1:n.1008+18_1008+19del | ||
| ENST00000265433.8:c.896+18_896+19del MANE Select | ENSP00000265433.4:n.896+18_896+19del | |
| ENST00000265433.7:c.896+18_896+19del | ENSP00000265433.3:n.896+18_896+19del | |
| ENST00000396252.6:c.*769+18_*769+19del | ENSP00000379551.2:n.*769+18_*769+19del | |
| ENST00000409330.5:c.650+18_650+19del | ENSP00000386924.1:n.650+18_650+19del | |
| NM_001024688.2:c.650+18_650+19del | NP_001019859.1:n.650+18_650+19del | |
| NM_002485.4:c.896+18_896+19del , LRG_158t1:c.896+18_896+19del | NP_002476.2:n.896+18_896+19del | |
| XM_011517044.1:c.872+18_872+19del | XP_011515346.1:n.872+18_872+19del | |
| XM_011517045.1:c.650+18_650+19del | XP_011515347.1:n.650+18_650+19del | |
| XM_011517046.1:c.896+18_896+19del | XP_011515348.1:n.896+18_896+19del | |
| XR_928335.1:n.1033+18_1033+19del | ||
| XM_017013460.1:c.17+18_17+19del | XP_016868949.1:n.17+18_17+19del | |
| XM_017013462.2:c.17+18_17+19del | XP_016868951.1:n.17+18_17+19del | |
| XM_024447163.1:c.650+18_650+19del | XP_024302931.1:n.650+18_650+19del | |
| XM_024447164.1:c.650+18_650+19del | XP_024302932.1:n.650+18_650+19del | |
| XM_024447165.1:c.17+18_17+19del | XP_024302933.1:n.17+18_17+19del | |
| NM_002485.5:c.896+18_896+19del MANE Select | NP_002476.2:n.896+18_896+19del | |
| NM_001024688.3:c.650+18_650+19del | NP_001019859.1:n.650+18_650+19del |