Linked Data
ClinVar Variation Id:
207411
dbSNP Id:
rs796053349
ExAC:
9:130444674 CTCTT / C
gnomAD v2:
9-130444674-CTCTT-C
gnomAD v3:
9-127682395-CTCTT-C
gnomAD v4:
9-127682395-CTCTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127682399_127682402del , CM000671.2:g.127682399_127682402del | GRCh38 |
| NC_000009.11:g.130444678_130444681del , CM000671.1:g.130444678_130444681del | GRCh37 |
| NC_000009.10:g.129484499_129484502del | NCBI36 |
| NG_016623.1:g.75193_75196del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000704680.1:c.1506-7_1506-4del | ENSP00000515991.1:n.1506-7_1506-4del | |
| ENST00000704681.1:c.1493-7_1493-4del | ENSP00000515992.1:n.1493-7_1493-4del | |
| ENST00000373299.5:c.1548-7_1548-4del MANE Select | ENSP00000362396.2:n.1548-7_1548-4del | |
| ENST00000373302.8:c.1548-7_1548-4del MANE Plus Clinical | ENSP00000362399.3:n.1548-7_1548-4del | |
| ENST00000626539.3:c.1506-7_1506-4del | ENSP00000487211.2:n.1506-7_1506-4del | |
| ENST00000635950.2:c.1548-7_1548-4del | ENSP00000490903.1:n.1548-7_1548-4del | |
| ENST00000636509.2:c.*503-7_*503-4del | ENSP00000490810.1:n.*503-7_*503-4del | |
| ENST00000636962.2:c.1548-7_1548-4del | ENSP00000489762.1:n.1548-7_1548-4del | |
| ENST00000637060.2:c.*1190-7_*1190-4del | ENSP00000490674.2:n.*1190-7_*1190-4del | |
| ENST00000637173.2:c.1506-7_1506-4del | ENSP00000490519.1:n.1506-7_1506-4del | |
| ENST00000637464.2:c.*2412-7_*2412-4del | ENSP00000489655.2:n.*2412-7_*2412-4del | |
| ENST00000637521.2:c.1506-7_1506-4del | ENSP00000489791.1:n.1506-7_1506-4del | |
| ENST00000637953.1:c.1548-7_1548-4del | ENSP00000490613.1:n.1548-7_1548-4del | |
| ENST00000647107.1:c.1490-7_1490-4del | ||
| ENST00000650920.1:c.1506-7_1506-4del | ENSP00000498834.1:n.1506-7_1506-4del | |
| ENST00000373299.4:c.1548-7_1548-4del | ENSP00000362396.1:n.1548-7_1548-4del | |
| ENST00000373302.7:c.1548-7_1548-4del | ENSP00000362399.3:n.1548-7_1548-4del | |
| ENST00000494254.3:c.96-7_96-4del | ENSP00000485397.1:n.96-7_96-4del | |
| ENST00000626416.2:n.1384-7_1384-4del | ||
| ENST00000628638.1:n.140-7_140-4del | ||
| NM_001032221.3:c.1548-7_1548-4del | NP_001027392.1:n.1548-7_1548-4del | |
| NM_003165.3:c.1548-7_1548-4del | NP_003156.1:n.1548-7_1548-4del | |
| NM_001032221.6:c.1548-7_1548-4del MANE Select | NP_001027392.1:n.1548-7_1548-4del | |
| NM_001374306.2:c.1539-7_1539-4del | NP_001361235.1:n.1539-7_1539-4del | |
| NM_001374307.2:c.1506-7_1506-4del | NP_001361236.1:n.1506-7_1506-4del | |
| NM_001374308.2:c.1506-7_1506-4del | NP_001361237.1:n.1506-7_1506-4del | |
| NM_001374309.2:c.1506-7_1506-4del | NP_001361238.1:n.1506-7_1506-4del | |
| NM_001374310.2:c.1506-7_1506-4del | NP_001361239.1:n.1506-7_1506-4del | |
| NM_001374311.2:c.1506-7_1506-4del | NP_001361240.1:n.1506-7_1506-4del | |
| NM_001374312.2:c.1506-7_1506-4del | NP_001361241.1:n.1506-7_1506-4del | |
| NM_001374313.2:c.1548-7_1548-4del | NP_001361242.1:n.1548-7_1548-4del | |
| NM_001374314.1:c.1548-7_1548-4del | NP_001361243.1:n.1548-7_1548-4del | |
| NM_001374315.2:c.1440-7_1440-4del | NP_001361244.1:n.1440-7_1440-4del | |
| NM_003165.6:c.1548-7_1548-4del MANE Plus Clinical | NP_003156.1:n.1548-7_1548-4del |