Linked Data
ClinVar Variation Id:
4547
ClinVar RCV Id:
RCV000004806
dbSNP Id:
rs879253712
gnomAD v4:
20-3908223-CTGTCTTT-C
PubMed:
PMID:11479594
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3908227_3908233del , CM000682.2:g.3908227_3908233del | GRCh38 |
| NC_000020.10:g.3888874_3888880del , CM000682.1:g.3888874_3888880del | GRCh37 |
| NC_000020.9:g.3836874_3836880del | NCBI36 |
| NG_008131.3:g.24389_24395del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000610179.7:c.600_606del MANE Select | ENSP00000477429.2:p.Phe201ProfsTer16 | |
| ENST00000316562.9:c.930_936del | ENSP00000313377.4:p.Phe311ProfsTer16 | |
| ENST00000336066.8:c.508+92_508+98del | ENSP00000477229.2:n.508+92_508+98del | |
| ENST00000610179.6:c.600_606del | ENSP00000477429.2:p.Phe201ProfsTer16 | |
| ENST00000643504.2:c.*281+92_*281+98del | ENSP00000495157.2:n.*281+92_*281+98del | |
| ENST00000646394.1:c.427_433del | ||
| ENST00000316562.8:c.930_936del | ENSP00000313377.4:p.Phe311ProfsTer16 | |
| ENST00000336066.7:c.469+92_469+98del | ENSP00000477229.1:n.469+92_469+98del | |
| ENST00000471830.1:n.382+92_382+98del | ||
| ENST00000495692.5:c.-328+92_-328+98del | ENSP00000476745.1:n.-328+92_-328+98del | |
| ENST00000497424.5:c.57_63del | ENSP00000417609.1:p.Phe20ProfsTer16 | |
| ENST00000610179.5:c.561_567del | ENSP00000477429.1:p.Phe188ProfsTer16 | |
| ENST00000621507.1:c.57_63del | ENSP00000481523.1:p.Phe20ProfsTer16 | |
| NM_024960.4:c.57_63del | NP_079236.3:p.Phe20ProfsTer16 | |
| NM_153638.2:c.930_936del | NP_705902.2:p.Phe311ProfsTer16 | |
| NM_153640.2:c.57_63del | NP_705904.1:p.Phe20ProfsTer16 | |
| XM_005260835.2:c.315_321del | XP_005260892.1:p.Phe106ProfsTer16 | |
| XM_005260836.3:c.57_63del | XP_005260893.3:p.Phe20ProfsTer16 | |
| XM_006723631.1:c.57_63del | XP_006723694.1:p.Phe20ProfsTer16 | |
| XM_011529364.1:c.930_936del | XP_011527666.1:p.Phe311ProfsTer16 | |
| XM_011529365.1:c.838+92_838+98del | XP_011527667.1:n.838+92_838+98del | |
| NM_001324191.1:c.57_63del | NP_001311120.1:p.Phe20ProfsTer16 | |
| NM_001324192.1:c.930_936del | NP_001311121.1:p.Phe311ProfsTer? | |
| NM_001324193.1:c.-328+92_-328+98del | NP_001311122.1:n.-328+92_-328+98del | |
| NM_024960.5:c.57_63del | NP_079236.3:p.Phe20ProfsTer16 | |
| NM_153638.3:c.930_936del | NP_705902.2:p.Phe311ProfsTer16 | |
| NM_153640.3:c.57_63del | NP_705904.1:p.Phe20ProfsTer16 | |
| NR_136715.1:n.1005+92_1005+98del | ||
| XM_005260835.3:c.315_321del | XP_005260892.1:p.Phe106ProfsTer16 | |
| XM_005260836.4:c.57_63del | XP_005260893.3:p.Phe20ProfsTer16 | |
| XM_011529364.3:c.930_936del | XP_011527666.1:p.Phe311ProfsTer16 | |
| XM_011529365.2:c.838+92_838+98del | XP_011527667.1:n.838+92_838+98del | |
| XM_017028077.2:c.-328+92_-328+98del | XP_016883566.1:n.-328+92_-328+98del | |
| XM_017028078.2:c.-328+92_-328+98del | XP_016883567.1:n.-328+92_-328+98del | |
| XM_017028079.2:c.-328+92_-328+98del | XP_016883568.1:n.-328+92_-328+98del | |
| XM_024452002.1:c.-328+92_-328+98del | XP_024307770.1:n.-328+92_-328+98del | |
| XR_002958533.1:n.1091_1097del | ||
| NM_001324191.2:c.57_63del | NP_001311120.1:p.Phe20ProfsTer16 | |
| NM_001324193.2:c.-328+92_-328+98del | NP_001311122.1:n.-328+92_-328+98del | |
| NM_024960.6:c.57_63del | NP_079236.3:p.Phe20ProfsTer16 | |
| NR_136715.2:n.552+92_552+98del | ||
| NM_001386393.1:c.600_606del MANE Select | NP_001373322.1:p.Phe201ProfsTer16 | |
| NM_153638.4:c.930_936del | NP_705902.2:p.Phe311ProfsTer16 | |
| NM_153640.4:c.57_63del | NP_705904.1:p.Phe20ProfsTer16 |