Linked Data
dbSNP Id:
rs57826034
gnomAD v2:
9-119314293-CACATAT-C
gnomAD v3:
9-116552014-CACATAT-C
gnomAD v4:
9-116552014-CACATAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.116552026_116552031del , CM000671.2:g.116552026_116552031del | GRCh38 |
| NC_000009.11:g.119314305_119314310del , CM000671.1:g.119314305_119314310del | GRCh37 |
| NC_000009.10:g.118354126_118354131del | NCBI36 |
| NG_021409.1:g.868019_868024del | |
| NG_021409.2:g.868038_868043del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313400.9:c.3356-64520_3356-64515del (ASTN2) MANE Select | ENSP00000314038.4:n.3356-64520_3356-64515del | |
| ENST00000361477.8:c.3203-64520_3203-64515del (ASTN2) | ENSP00000355116.5:n.3203-64520_3203-64515del | |
| ENST00000288520.9:c.659-64520_659-64515del (ASTN2) | ENSP00000288520.5:n.659-64520_659-64515del | |
| ENST00000313400.8:c.3356-64520_3356-64515del (ASTN2) | ENSP00000314038.4:n.3356-64520_3356-64515del | |
| ENST00000341734.8:c.512-64520_512-64515del (ASTN2) | ENSP00000339925.4:n.512-64520_512-64515del | |
| ENST00000361209.6:c.3203-64520_3203-64515del (ASTN2) | ENSP00000354504.2:n.3203-64520_3203-64515del | |
| ENST00000361477.7:c.512-64520_512-64515del (ASTN2) | ENSP00000355116.4:n.512-64520_512-64515del | |
| ENST00000373986.7:c.2525-64520_2525-64515del (ASTN2) | ENSP00000363098.3:n.2525-64520_2525-64515del | |
| NM_001184734.1:c.512-64520_512-64515del (ASTN2) | NP_001171663.1:n.512-64520_512-64515del | |
| NM_014010.4:c.3203-64520_3203-64515del (ASTN2) | NP_054729.3:n.3203-64520_3203-64515del | |
| NM_198186.3:c.659-64520_659-64515del (ASTN2) | NP_937829.3:n.659-64520_659-64515del | |
| NM_198187.3:c.512-64520_512-64515del (ASTN2) | NP_937830.3:n.512-64520_512-64515del | |
| NM_198188.2:c.512-64520_512-64515del (ASTN2) | NP_937831.1:n.512-64520_512-64515del | |
| NR_033973.1:n.1325-84_1325-79del (ASTN2-AS1) | ||
| NM_001365068.1:c.3356-64520_3356-64515del (ASTN2) MANE Select | NP_001351997.1:n.3356-64520_3356-64515del | |
| NM_001365069.1:c.3344-64520_3344-64515del (ASTN2) | NP_001351998.1:n.3344-64520_3344-64515del | |
| NM_014010.5:c.3203-64520_3203-64515del (ASTN2) | NP_054729.3:n.3203-64520_3203-64515del |