Linked Data
ClinVar Variation Id:
2753178
ClinVar RCV Id:
RCV003503001
dbSNP Id:
rs2090570190
gnomAD v4:
20-3916931-GGAAACAT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3916934_3916940del , CM000682.2:g.3916934_3916940del | GRCh38 |
| NC_000020.10:g.3897581_3897587del , CM000682.1:g.3897581_3897587del | GRCh37 |
| NC_000020.9:g.3845581_3845587del | NCBI36 |
| NG_008131.3:g.33096_33102del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610179.7:c.1090_1096del MANE Select | ENSP00000477429.2:p.Asn364Ter | |
| ENST00000316562.9:c.1420_1426del | ENSP00000313377.4:p.Asn474Ter | |
| ENST00000336066.8:c.*431_*437del | ENSP00000477229.2:n.*431_*437del | |
| ENST00000610179.6:c.1090_1096del | ENSP00000477429.2:p.Asn364Ter | |
| ENST00000643504.2:c.*720_*726del | ENSP00000495157.2:n.*720_*726del | |
| ENST00000646394.1:c.917_923del | ||
| ENST00000316562.8:c.1420_1426del | ENSP00000313377.4:p.Asn474Ter | |
| ENST00000336066.7:c.*431_*437del | ENSP00000477229.1:n.*431_*437del | |
| ENST00000464452.1:n.655_661del | ||
| ENST00000495692.5:c.112_118del | ENSP00000476745.1:p.Asn38Ter | |
| ENST00000497424.5:c.547_553del | ENSP00000417609.1:p.Asn183Ter | |
| ENST00000610179.5:c.1051_1057del | ENSP00000477429.1:p.Asn351Ter | |
| ENST00000621507.1:c.547_553del | ENSP00000481523.1:p.Asn183Ter | |
| NM_024960.4:c.547_553del | NP_079236.3:p.Asn183Ter | |
| NM_153638.2:c.1420_1426del | NP_705902.2:p.Asn474Ter | |
| NM_153640.2:c.547_553del | NP_705904.1:p.Asn183Ter | |
| XM_005260835.2:c.805_811del | XP_005260892.1:p.Asn269Ter | |
| XM_005260836.3:c.547_553del | XP_005260893.3:p.Asn183Ter | |
| XM_006723631.1:c.547_553del | XP_006723694.1:p.Asn183Ter | |
| XM_011529364.1:c.1243_1249del | XP_011527666.1:p.Asn415Ter | |
| NM_001324191.1:c.547_553del | NP_001311120.1:p.Asn183Ter | |
| NM_001324193.1:c.112_118del | NP_001311122.1:p.Asn38Ter | |
| NM_024960.5:c.547_553del | NP_079236.3:p.Asn183Ter | |
| NM_153638.3:c.1420_1426del | NP_705902.2:p.Asn474Ter | |
| NM_153640.3:c.547_553del | NP_705904.1:p.Asn183Ter | |
| NR_136715.1:n.1444_1450del | ||
| XM_005260835.3:c.805_811del | XP_005260892.1:p.Asn269Ter | |
| XM_005260836.4:c.547_553del | XP_005260893.3:p.Asn183Ter | |
| XM_011529364.3:c.1243_1249del | XP_011527666.1:p.Asn415Ter | |
| XM_017028077.2:c.112_118del | XP_016883566.1:p.Asn38Ter | |
| XM_017028078.2:c.112_118del | XP_016883567.1:p.Asn38Ter | |
| XM_017028079.2:c.112_118del | XP_016883568.1:p.Asn38Ter | |
| XM_024452002.1:c.112_118del | XP_024307770.1:p.Asn38Ter | |
| XR_002958533.1:n.2208_2214del | ||
| NM_001324191.2:c.547_553del | NP_001311120.1:p.Asn183Ter | |
| NM_001324193.2:c.112_118del | NP_001311122.1:p.Asn38Ter | |
| NM_024960.6:c.547_553del | NP_079236.3:p.Asn183Ter | |
| NR_136715.2:n.991_997del | ||
| NM_001386393.1:c.1090_1096del MANE Select | NP_001373322.1:p.Asn364Ter | |
| NM_153638.4:c.1420_1426del | NP_705902.2:p.Asn474Ter | |
| NM_153640.4:c.547_553del | NP_705904.1:p.Asn183Ter |