Linked Data
dbSNP Id:
rs1428180393
gnomAD v2:
12-22060916-AATTATCTTTAGTGGT-A
gnomAD v3:
12-21907982-AATTATCTTTAGTGGT-A
gnomAD v4:
12-21907982-AATTATCTTTAGTGGT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21907985_21907999del , CM000674.2:g.21907985_21907999del | GRCh38 |
| NC_000012.11:g.22060919_22060933del , CM000674.1:g.22060919_22060933del | GRCh37 |
| NC_000012.10:g.21952186_21952200del | NCBI36 |
| NG_012819.1:g.33698_33712del , LRG_377:g.33698_33712del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261201.10:c.1455+80_1455+94del | ENSP00000261201.4:n.1455+80_1455+94del | |
| ENST00000682068.1:c.1455+80_1455+94del | ENSP00000507226.1:n.1455+80_1455+94del | |
| ENST00000682789.1:n.1706+80_1706+94del | ||
| ENST00000682879.1:c.*556+80_*556+94del | ENSP00000508210.1:n.*556+80_*556+94del | |
| ENST00000683105.1:c.1455+80_1455+94del | ENSP00000506801.1:n.1455+80_1455+94del | |
| ENST00000683676.1:c.1455+80_1455+94del | ENSP00000508167.1:n.1455+80_1455+94del | |
| ENST00000684084.1:c.1455+80_1455+94del | ENSP00000507859.1:n.1455+80_1455+94del | |
| ENST00000684543.1:n.1800+80_1800+94del | ||
| ENST00000261200.9:c.1455+80_1455+94del MANE Select | ENSP00000261200.4:n.1455+80_1455+94del | |
| ENST00000261201.9:c.1455+80_1455+94del | ENSP00000261201.4:n.1455+80_1455+94del | |
| ENST00000261200.8:c.1455+80_1455+94del | ENSP00000261200.4:n.1455+80_1455+94del | |
| ENST00000261201.8:c.1455+80_1455+94del | ENSP00000261201.4:n.1455+80_1455+94del | |
| ENST00000544039.5:c.444+80_444+94del | ENSP00000440521.1:n.444+80_444+94del | |
| NM_005691.3:c.1455+80_1455+94del | NP_005682.2:n.1455+80_1455+94del | |
| NM_020297.3:c.1455+80_1455+94del | NP_064693.2:n.1455+80_1455+94del | |
| XM_005253284.2:c.1455+80_1455+94del | XP_005253341.1:n.1455+80_1455+94del | |
| XM_005253286.2:c.1455+80_1455+94del | XP_005253343.1:n.1455+80_1455+94del | |
| XM_005253287.3:c.1455+80_1455+94del | XP_005253344.1:n.1455+80_1455+94del | |
| XM_005253288.2:c.1455+80_1455+94del | XP_005253345.1:n.1455+80_1455+94del | |
| XM_005253289.2:c.1455+80_1455+94del | XP_005253346.1:n.1455+80_1455+94del | |
| XM_005253290.2:c.1455+80_1455+94del | XP_005253347.1:n.1455+80_1455+94del | |
| XM_006719025.2:c.1455+80_1455+94del | XP_006719088.1:n.1455+80_1455+94del | |
| XM_011520545.1:c.1455+80_1455+94del | XP_011518847.1:n.1455+80_1455+94del | |
| XM_005253284.4:c.1455+80_1455+94del | XP_005253341.1:n.1455+80_1455+94del | |
| XM_005253286.4:c.1455+80_1455+94del | XP_005253343.1:n.1455+80_1455+94del | |
| XM_005253287.5:c.1455+80_1455+94del | XP_005253344.1:n.1455+80_1455+94del | |
| XM_005253288.4:c.1455+80_1455+94del | XP_005253345.1:n.1455+80_1455+94del | |
| XM_005253289.4:c.1455+80_1455+94del | XP_005253346.1:n.1455+80_1455+94del | |
| XM_005253290.4:c.1455+80_1455+94del | XP_005253347.1:n.1455+80_1455+94del | |
| XM_006719025.4:c.1455+80_1455+94del | XP_006719088.1:n.1455+80_1455+94del | |
| XM_011520545.3:c.1455+80_1455+94del | XP_011518847.1:n.1455+80_1455+94del | |
| NM_001377273.1:c.1455+80_1455+94del | NP_001364202.1:n.1455+80_1455+94del | |
| NM_001377274.1:c.591+80_591+94del | NP_001364203.1:n.591+80_591+94del | |
| NM_005691.4:c.1455+80_1455+94del | NP_005682.2:n.1455+80_1455+94del | |
| NM_020297.4:c.1455+80_1455+94del MANE Select | NP_064693.2:n.1455+80_1455+94del |