Linked Data
dbSNP Id:
rs201704080
gnomAD v2:
12-99131877-CAGA-C
gnomAD v3:
12-98738099-CAGA-C
gnomAD v4:
12-98738099-CAGA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.98738105_98738107del , CM000674.2:g.98738105_98738107del | GRCh38 |
| NC_000012.11:g.99131883_99131885del , CM000674.1:g.99131883_99131885del | GRCh37 |
| NC_000012.10:g.97656014_97656016del | NCBI36 |
| NG_029860.1:g.1251553_1251555del | |
| NG_029860.2:g.1251553_1251555del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341752.11:c.691-2468_691-2466del | ENSP00000345510.6:n.691-2468_691-2466del | |
| ENST00000547010.5:c.2221-2468_2221-2466del | ENSP00000448512.1:n.2221-2468_2221-2466del | |
| ENST00000547776.6:c.3673-2468_3673-2466del | ENSP00000449629.2:n.3673-2468_3673-2466del | |
| ENST00000549558.6:c.1171-2468_1171-2466del | ENSP00000448993.2:n.1171-2468_1171-2466del | |
| ENST00000551212.1:n.317-2468_317-2466del | ||
| ENST00000555119.1:c.83-2468_83-2466del | ||
| NM_001204081.1:c.691-2468_691-2466del | NP_001191010.1:n.691-2468_691-2466del | |
| NM_020140.3:c.1171-2468_1171-2466del | NP_064525.1:n.1171-2468_1171-2466del | |
| NM_152788.4:c.3673-2468_3673-2466del | NP_690001.3:n.3673-2468_3673-2466del | |
| XM_006719507.2:c.3748-2468_3748-2466del | XP_006719570.1:n.3748-2468_3748-2466del | |
| XM_006719514.2:c.3481-2468_3481-2466del | XP_006719577.1:n.3481-2468_3481-2466del | |
| XR_944628.1:n.4564-2468_4564-2466del | ||
| XR_944629.1:n.4563+7422_4563+7424del | ||
| NM_001352196.1:c.1423-2468_1423-2466del | NP_001339125.1:n.1423-2468_1423-2466del | |
| NM_001352197.1:c.1351-2468_1351-2466del | NP_001339126.1:n.1351-2468_1351-2466del | |
| NM_001352213.1:c.466-2468_466-2466del | NP_001339142.1:n.466-2468_466-2466del | |
| NM_001352214.1:c.466-2468_466-2466del | NP_001339143.1:n.466-2468_466-2466del | |
| NM_001352216.1:c.466-2468_466-2466del | NP_001339145.1:n.466-2468_466-2466del | |
| NM_001352223.1:c.766-2468_766-2466del | NP_001339152.1:n.766-2468_766-2466del | |
| XM_006719507.4:c.3748-2468_3748-2466del | XP_006719570.1:n.3748-2468_3748-2466del | |
| XM_006719514.4:c.3481-2468_3481-2466del | XP_006719577.1:n.3481-2468_3481-2466del | |
| XM_017019653.2:c.3745-2468_3745-2466del | XP_016875142.1:n.3745-2468_3745-2466del | |
| XM_017019654.2:c.3733-2468_3733-2466del | XP_016875143.1:n.3733-2468_3733-2466del | |
| XM_017019658.2:c.3493-2468_3493-2466del | XP_016875147.1:n.3493-2468_3493-2466del | |
| XM_024449068.1:c.1324-2468_1324-2466del | XP_024304836.1:n.1324-2468_1324-2466del | |
| XM_024449070.1:c.1255-2468_1255-2466del | XP_024304838.1:n.1255-2468_1255-2466del | |
| NM_001204081.2:c.691-2468_691-2466del | NP_001191010.1:n.691-2468_691-2466del | |
| NM_001352196.2:c.1423-2468_1423-2466del | NP_001339125.1:n.1423-2468_1423-2466del | |
| NM_001352197.2:c.1351-2468_1351-2466del | NP_001339126.1:n.1351-2468_1351-2466del | |
| NM_001352213.2:c.466-2468_466-2466del | NP_001339142.1:n.466-2468_466-2466del | |
| NM_001352214.2:c.466-2468_466-2466del | NP_001339143.1:n.466-2468_466-2466del | |
| NM_001352216.2:c.466-2468_466-2466del | NP_001339145.1:n.466-2468_466-2466del | |
| NM_001352223.2:c.766-2468_766-2466del | NP_001339152.1:n.766-2468_766-2466del | |
| NM_020140.4:c.1171-2468_1171-2466del | NP_064525.1:n.1171-2468_1171-2466del |