Linked Data
dbSNP Id:
rs758060683
ExAC:
1:17322539 CCT / C
gnomAD v2:
1-17322539-CCT-C
gnomAD v3:
1-16996044-CCT-C
gnomAD v4:
1-16996044-CCT-C
COSMIC:
COSM249210
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16996045_16996046del , CM000663.2:g.16996045_16996046del | GRCh38 |
| NC_000001.10:g.17322540_17322541del , CM000663.1:g.17322540_17322541del | GRCh37 |
| NC_000001.9:g.17195127_17195128del | NCBI36 |
| NG_009054.1:g.20883_20884del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326735.13:c.1472_1473del MANE Select | ENSP00000327214.8:p.Gln491ArgfsTer29 | |
| ENST00000326735.12:c.1472_1473del | ENSP00000327214.8:p.Gln491ArgfsTer29 | |
| ENST00000341676.9:c.1457_1458del | ENSP00000341115.5:p.Gln486ArgfsTer29 | |
| ENST00000452699.5:c.1457_1458del | ENSP00000413307.1:p.Gln486ArgfsTer29 | |
| ENST00000463860.5:n.1080_1081del | ||
| ENST00000502860.1:n.500_501del | ||
| ENST00000503552.1:c.149_150del | ENSP00000421126.1:p.Gln50ArgfsTer? | |
| ENST00000509392.1:n.560_561del | ||
| ENST00000617114.4:c.500_501del | ENSP00000478781.1:p.Gln167ArgfsTer? | |
| NM_001141973.2:c.1457_1458del | NP_001135445.1:p.Gln486ArgfsTer29 | |
| NM_001141974.2:c.1457_1458del | NP_001135446.1:p.Gln486ArgfsTer29 | |
| NM_022089.3:c.1472_1473del | NP_071372.1:p.Gln491ArgfsTer29 | |
| XM_005245809.1:c.1472_1473del | XP_005245866.1:p.Gln491ArgfsTer29 | |
| XM_005245810.1:c.1469_1470del | XP_005245867.1:p.Gln490ArgfsTer29 | |
| XM_005245811.1:c.1457_1458del | XP_005245868.1:p.Gln486ArgfsTer29 | |
| XM_005245812.1:c.1445_1446del | XP_005245869.1:p.Gln482ArgfsTer29 | |
| XM_005245813.1:c.1472_1473del | XP_005245870.1:p.Gln491ArgfsTer29 | |
| XM_005245815.1:c.1472_1473del | XP_005245872.1:p.Gln491ArgfsTer29 | |
| XM_006710512.1:c.1454_1455del | XP_006710575.1:p.Gln485ArgfsTer29 | |
| XM_006710513.1:c.1430_1431del | XP_006710576.1:p.Gln477ArgfsTer29 | |
| XM_011541128.1:c.1472_1473del | XP_011539430.1:p.Gln491ArgfsTer24 | |
| XM_011541129.1:c.1472_1473del | XP_011539431.1:p.Gln491ArgfsTer? | |
| XM_017000844.1:c.1472_1473del | XP_016856333.1:p.Gln491ArgfsTer24 | |
| XM_017000845.1:c.1454_1455del | XP_016856334.1:p.Gln485ArgfsTer29 | |
| XM_017000846.1:c.1430_1431del | XP_016856335.1:p.Gln477ArgfsTer29 | |
| XM_017000847.1:c.1442_1443del | XP_016856336.1:p.Gln481ArgfsTer24 | |
| XM_017000848.1:c.1472_1473del | XP_016856337.1:p.Gln491ArgfsTer29 | |
| XM_017000849.1:c.1457_1458del | XP_016856338.1:p.Gln486ArgfsTer29 | |
| XM_017000850.1:c.1472_1473del | XP_016856339.1:p.Gln491ArgfsTer? | |
| NM_022089.4:c.1472_1473del MANE Select | NP_071372.1:p.Gln491ArgfsTer29 | |
| NM_001141973.3:c.1457_1458del | NP_001135445.1:p.Gln486ArgfsTer29 | |
| NM_001141974.3:c.1457_1458del | NP_001135446.1:p.Gln486ArgfsTer29 |