Linked Data
dbSNP Id:
rs1334440618
gnomAD v2:
17-78092174-TCAGG-T
gnomAD v3:
17-80118375-TCAGG-T
gnomAD v4:
17-80118375-TCAGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80118377_80118380del , CM000679.2:g.80118377_80118380del | GRCh38 |
| NC_000017.10:g.78092176_78092179del , CM000679.1:g.78092176_78092179del | GRCh37 |
| NC_000017.9:g.75706771_75706774del | NCBI36 |
| NG_009822.1:g.21822_21825del , LRG_673:g.21822_21825del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570803.6:c.2646+20_2646+23del | ENSP00000460543.2:n.2646+20_2646+23del | |
| ENST00000572080.2:c.*784+20_*784+23del | ENSP00000459972.2:n.*784+20_*784+23del | |
| ENST00000577106.6:c.2646+20_2646+23del | ENSP00000458306.2:n.2646+20_2646+23del | |
| ENST00000302262.8:c.2646+20_2646+23del MANE Select | ENSP00000305692.3:n.2646+20_2646+23del | |
| ENST00000302262.7:c.2646+20_2646+23del | ENSP00000305692.3:n.2646+20_2646+23del | |
| ENST00000390015.7:c.2646+20_2646+23del | ENSP00000374665.3:n.2646+20_2646+23del | |
| ENST00000573556.1:n.599+20_599+23del | ||
| NM_000152.3:c.2646+20_2646+23del , LRG_673t1:c.2646+20_2646+23del | NP_000143.2:n.2646+20_2646+23del | |
| NM_001079803.1:c.2646+20_2646+23del | NP_001073271.1:n.2646+20_2646+23del | |
| NM_001079804.1:c.2646+20_2646+23del | NP_001073272.1:n.2646+20_2646+23del | |
| XM_005257193.1:c.2646+20_2646+23del | XP_005257250.1:n.2646+20_2646+23del | |
| XM_005257194.3:c.2646+20_2646+23del | XP_005257251.1:n.2646+20_2646+23del | |
| NM_000152.4:c.2646+20_2646+23del | NP_000143.2:n.2646+20_2646+23del | |
| NM_001079803.2:c.2646+20_2646+23del | NP_001073271.1:n.2646+20_2646+23del | |
| NM_001079804.2:c.2646+20_2646+23del | NP_001073272.1:n.2646+20_2646+23del | |
| XM_005257193.2:c.2646+20_2646+23del | XP_005257250.1:n.2646+20_2646+23del | |
| XM_005257194.4:c.2646+20_2646+23del | XP_005257251.1:n.2646+20_2646+23del | |
| NM_000152.5:c.2646+20_2646+23del MANE Select | NP_000143.2:n.2646+20_2646+23del | |
| NM_001079803.3:c.2646+20_2646+23del | NP_001073271.1:n.2646+20_2646+23del | |
| NM_001079804.3:c.2646+20_2646+23del | NP_001073272.1:n.2646+20_2646+23del |