Linked Data
ClinVar Variation Id:
638949
dbSNP Id:
rs1301983423
gnomAD v2:
7-117199664-TGAATATAGATACA-T
gnomAD v4:
7-117559610-TGAATATAGATACA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117559614_117559626del , CM000669.2:g.117559614_117559626del | GRCh38 |
| NC_000007.13:g.117199668_117199680del , CM000669.1:g.117199668_117199680del | GRCh37 |
| NC_000007.12:g.116986904_116986916del | NCBI36 |
| NG_016465.4:g.98831_98843del , LRG_663:g.98831_98843del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.1543_1555del (CFTR) | ENSP00000497673.2:p.Tyr515AlafsTer8 | |
| ENST00000647978.2:c.*1257_*1269del (CFTR) | ENSP00000497658.1:n.*1257_*1269del | |
| ENST00000649781.2:c.1360_1372del (CFTR) | ENSP00000497203.1:p.Tyr454AlafsTer8 | |
| ENST00000685018.2:c.1543_1555del (CFTR) | ENSP00000510194.2:p.Tyr515AlafsTer8 | |
| ENST00000687278.2:c.1543_1555del (CFTR) | ENSP00000509593.2:p.Tyr515AlafsTer8 | |
| ENST00000699585.1:c.1543_1555del (CFTR) | ENSP00000514456.1:p.Tyr515AlafsTer8 | |
| ENST00000699596.1:c.1543_1555del (CFTR) | ENSP00000514465.1:p.Tyr515AlafsTer8 | |
| ENST00000699597.1:c.*101_*113del (CFTR) | ENSP00000514466.1:n.*101_*113del | |
| ENST00000699598.1:c.1543_1555del (CFTR) | ENSP00000514467.1:p.Tyr515AlafsTer8 | |
| ENST00000699599.1:c.1543_1555del (CFTR) | ENSP00000514468.1:p.Tyr515AlafsTer8 | |
| ENST00000699600.1:c.1543_1555del (CFTR) | ENSP00000514469.1:p.Tyr515AlafsTer8 | |
| ENST00000699601.1:c.1543_1555del (CFTR) | ENSP00000514470.1:p.Tyr515AlafsTer8 | |
| ENST00000699602.1:c.1543_1555del (CFTR) | ENSP00000514471.1:p.Tyr515AlafsTer8 | |
| ENST00000699604.1:c.*1367_*1379del (CFTR) | ENSP00000514472.1:n.*1367_*1379del | |
| ENST00000699605.1:c.1117_1129del (CFTR) | ENSP00000514473.1:p.Tyr373AlafsTer8 | |
| ENST00000003084.11:c.1543_1555del (CFTR) MANE Select | ENSP00000003084.6:p.Tyr515AlafsTer8 | |
| ENST00000647978.1:c.*1257_*1269del (CFTR) | ENSP00000497658.1:n.*1257_*1269del | |
| ENST00000648260.1:c.1360_1372del (CFTR) | ENSP00000497957.1:p.Tyr454AlafsTer8 | |
| ENST00000649406.1:c.1360_1372del (CFTR) | ENSP00000497965.1:p.Tyr454AlafsTer8 | |
| ENST00000649781.1:c.1360_1372del (CFTR) | ENSP00000497203.1:p.Tyr454AlafsTer8 | |
| ENST00000003084.10:c.1543_1555del (CFTR) | ENSP00000003084.6:p.Tyr515AlafsTer8 | |
| ENST00000426809.5:c.1453_1465del (CFTR) | ENSP00000389119.1:p.Tyr485AlafsTer8 | |
| NM_000492.3:c.1543_1555del , LRG_663t1:c.1543_1555del (CFTR) | NP_000483.3:p.Tyr515AlafsTer8 | |
| XM_011515751.1:c.1633_1645del (CFTR) | XP_011514053.1:p.Tyr545AlafsTer8 | |
| XM_011515752.1:c.1633_1645del (CFTR) | XP_011514054.1:p.Tyr545AlafsTer8 | |
| XM_011515753.1:c.1300_1312del (CFTR) | XP_011514055.1:p.Tyr434AlafsTer8 | |
| XM_011515754.1:c.1300_1312del (CFTR) | XP_011514056.1:p.Tyr434AlafsTer8 | |
| NR_149084.1:n.221+1110_221+1122del (CFTR-AS1) | ||
| NM_000492.4:c.1543_1555del (CFTR) MANE Select | NP_000483.3:p.Tyr515AlafsTer8 |