Linked Data
dbSNP Id:
rs1388759898
gnomAD v2:
18-21136197-AGCAG-A
gnomAD v3:
18-23556233-AGCAG-A
gnomAD v4:
18-23556233-AGCAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23556235_23556238del , CM000680.2:g.23556235_23556238del | GRCh38 |
| NC_000018.9:g.21136199_21136202del , CM000680.1:g.21136199_21136202del | GRCh37 |
| NC_000018.8:g.19390197_19390200del | NCBI36 |
| NG_012795.1:g.35381_35384del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269228.10:c.1326+6_1326+9del MANE Select | ENSP00000269228.4:n.1326+6_1326+9del | |
| ENST00000269228.9:c.1326+6_1326+9del | ENSP00000269228.4:n.1326+6_1326+9del | |
| ENST00000540608.5:n.1240+6_1240+9del | ||
| ENST00000591051.1:c.608+6_608+9del | ||
| NM_000271.4:c.1326+6_1326+9del | NP_000262.2:n.1326+6_1326+9del | |
| XM_005258277.1:c.1377+6_1377+9del | XP_005258334.1:n.1377+6_1377+9del | |
| XM_005258278.3:c.1377+6_1377+9del | XP_005258335.1:n.1377+6_1377+9del | |
| XM_005258279.1:c.1326+6_1326+9del | XP_005258336.1:n.1326+6_1326+9del | |
| XM_006722479.2:c.1377+6_1377+9del | XP_006722542.1:n.1377+6_1377+9del | |
| XM_011526015.1:c.912+6_912+9del | XP_011524317.1:n.912+6_912+9del | |
| XM_005258278.5:c.1377+6_1377+9del | XP_005258335.1:n.1377+6_1377+9del | |
| XM_005258279.2:c.1326+6_1326+9del | XP_005258336.1:n.1326+6_1326+9del | |
| XM_006722479.3:c.1377+6_1377+9del | XP_006722542.1:n.1377+6_1377+9del | |
| XM_017025784.1:c.1377+6_1377+9del | XP_016881273.1:n.1377+6_1377+9del | |
| XM_017025785.1:c.1377+6_1377+9del | XP_016881274.1:n.1377+6_1377+9del | |
| XM_017025786.1:c.1326+6_1326+9del | XP_016881275.1:n.1326+6_1326+9del | |
| XM_017025787.1:c.1326+6_1326+9del | XP_016881276.1:n.1326+6_1326+9del | |
| NM_000271.5:c.1326+6_1326+9del MANE Select | NP_000262.2:n.1326+6_1326+9del |