Linked Data
dbSNP Id:
rs1174464022
gnomAD v2:
11-22829699-CACAATG-C
gnomAD v3:
11-22808153-CACAATG-C
gnomAD v4:
11-22808153-CACAATG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22808157_22808162del , CM000673.2:g.22808157_22808162del | GRCh38 |
| NC_000011.9:g.22829703_22829708del , CM000673.1:g.22829703_22829708del | GRCh37 |
| NC_000011.8:g.22786279_22786284del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000454584.7:c.724-3641_724-3636del MANE Select | ENSP00000401145.2:n.724-3641_724-3636del | |
| ENST00000278187.7:c.724-3641_724-3636del | ENSP00000278187.3:n.724-3641_724-3636del | |
| ENST00000454584.6:c.724-3641_724-3636del | ENSP00000401145.2:n.724-3641_724-3636del | |
| ENST00000524701.5:c.*364-3641_*364-3636del | ENSP00000432026.1:n.*364-3641_*364-3636del | |
| NM_001143830.1:c.724-3641_724-3636del | NP_001137302.1:n.724-3641_724-3636del | |
| NM_005256.3:c.724-3641_724-3636del | NP_005247.1:n.724-3641_724-3636del | |
| NM_177553.2:c.724-3641_724-3636del | NP_808221.1:n.724-3641_724-3636del | |
| XM_011519971.1:c.778-3641_778-3636del | XP_011518273.1:n.778-3641_778-3636del | |
| XM_011519972.1:c.778-3641_778-3636del | XP_011518274.1:n.778-3641_778-3636del | |
| XM_011519973.1:c.778-3641_778-3636del | XP_011518275.1:n.778-3641_778-3636del | |
| XM_011519978.1:c.*20-3641_*20-3636del | XP_011518280.1:n.*20-3641_*20-3636del | |
| NM_001351224.1:c.*20-3641_*20-3636del | NP_001338153.1:n.*20-3641_*20-3636del | |
| NR_147085.1:n.1168-3641_1168-3636del | ||
| XM_011519971.3:c.778-3641_778-3636del | XP_011518273.1:n.778-3641_778-3636del | |
| XM_011519972.3:c.778-3641_778-3636del | XP_011518274.1:n.778-3641_778-3636del | |
| XM_017017532.1:c.724-26750_724-26745del | XP_016873021.1:n.724-26750_724-26745del | |
| XR_001747829.1:n.1030-26750_1030-26745del | ||
| NM_001143830.2:c.724-3641_724-3636del | NP_001137302.1:n.724-3641_724-3636del | |
| NM_001351224.2:c.*20-3641_*20-3636del | NP_001338153.1:n.*20-3641_*20-3636del | |
| NM_005256.4:c.724-3641_724-3636del | NP_005247.1:n.724-3641_724-3636del | |
| NM_177553.3:c.724-3641_724-3636del | NP_808221.1:n.724-3641_724-3636del | |
| NR_147085.2:n.1436-3641_1436-3636del | ||
| NM_001143830.3:c.724-3641_724-3636del MANE Select | NP_001137302.1:n.724-3641_724-3636del | |
| NM_001351224.3:c.*20-3641_*20-3636del | NP_001338153.1:n.*20-3641_*20-3636del | |
| NM_001391933.1:c.778-3641_778-3636del | NP_001378862.1:n.778-3641_778-3636del | |
| NM_001391934.1:c.724-3641_724-3636del | NP_001378863.1:n.724-3641_724-3636del | |
| NM_001391935.1:c.724-3641_724-3636del | NP_001378864.1:n.724-3641_724-3636del | |
| NM_001391936.1:c.724-3641_724-3636del | NP_001378865.1:n.724-3641_724-3636del | |
| NM_001391937.1:c.724-3641_724-3636del | NP_001378866.1:n.724-3641_724-3636del | |
| NM_005256.5:c.724-3641_724-3636del | NP_005247.1:n.724-3641_724-3636del | |
| NM_177553.4:c.724-3641_724-3636del | NP_808221.1:n.724-3641_724-3636del |