Linked Data
ClinVar Variation Id:
215221
ClinVar RCV Id:
RCV000195477
dbSNP Id:
rs863224223
gnomAD v4:
16-89556891-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89556894del , CM000678.2:g.89556894del | GRCh38 |
| NC_000016.9:g.89623302del , CM000678.1:g.89623302del | GRCh37 |
| NC_000016.8:g.88150803del | NCBI36 |
| NG_008082.1:g.53498del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000268704.7:c.2168del | ENSP00000268704.3:p.Asn723ThrfsTer8 | |
| ENST00000561702.6:n.2861del | ||
| ENST00000565891.2:c.213del | ENSP00000495004.1:p.Lys71AsnfsTer? | |
| ENST00000569720.2:n.872del | ||
| ENST00000569820.6:c.2462del | ||
| ENST00000642226.1:n.2252del | ||
| ENST00000642334.1:c.3607del | ||
| ENST00000642814.1:n.1604del | ||
| ENST00000642984.1:n.1912del | ||
| ENST00000643105.1:c.2895del | ||
| ENST00000643350.1:n.1603del | ||
| ENST00000643409.1:n.2614del | ||
| ENST00000643496.1:n.2006del | ||
| ENST00000643649.1:c.2078del | ENSP00000494806.1:p.Asn693ThrfsTer8 | |
| ENST00000643668.1:c.*2483del | ENSP00000494903.1:n.*2483del | |
| ENST00000643724.1:c.*1237del | ENSP00000496335.1:n.*1237del | |
| ENST00000643954.1:c.3088del | ||
| ENST00000644171.1:n.2949del | ||
| ENST00000644210.1:c.*761del | ENSP00000495675.1:n.*761del | |
| ENST00000644225.1:n.3728del | ||
| ENST00000644281.1:n.2873del | ||
| ENST00000644464.1:n.2364del | ||
| ENST00000644498.1:c.*2008del | ENSP00000496244.1:n.*2008del | |
| ENST00000644671.1:c.1846del | ||
| ENST00000644751.1:c.1377del | ||
| ENST00000644781.1:c.2144del | ENSP00000495473.1:p.Asn715ThrfsTer8 | |
| ENST00000644901.1:c.*2583del | ENSP00000493797.1:n.*2583del | |
| ENST00000645042.1:c.*963del | ENSP00000493908.1:n.*963del | |
| ENST00000645063.1:c.2397del | ENSP00000493590.1:p.Lys799AsnfsTer? | |
| ENST00000645392.1:n.2530del | ||
| ENST00000645742.1:n.823del | ||
| ENST00000645818.2:c.2189del MANE Select | ENSP00000495795.2:p.Asn730ThrfsTer8 | |
| ENST00000645842.1:n.2034del | ||
| ENST00000645886.1:c.1694del | ||
| ENST00000645897.1:c.1727del | ENSP00000495293.1:p.Asn576ThrfsTer8 | |
| ENST00000645952.1:n.2219del | ||
| ENST00000645977.1:n.3307del | ||
| ENST00000646005.1:n.1947del | ||
| ENST00000646263.1:c.*1062del | ENSP00000494119.1:n.*1062del | |
| ENST00000646303.1:c.2057del | ENSP00000494160.1:p.Asn686ThrfsTer8 | |
| ENST00000646399.1:c.3083del | ||
| ENST00000646445.1:c.1047del | ||
| ENST00000646531.1:c.*812del | ENSP00000495185.1:n.*812del | |
| ENST00000646589.1:c.*1317del | ENSP00000494739.1:n.*1317del | |
| ENST00000646716.1:c.1449del | ENSP00000495593.1:p.Lys483AsnfsTer? | |
| ENST00000646826.1:c.*862del | ENSP00000495123.1:n.*862del | |
| ENST00000646930.1:c.*2118del | ENSP00000495219.1:n.*2118del | |
| ENST00000647032.1:c.1820del | ||
| ENST00000647079.1:c.1781del | ENSP00000495967.1:p.Asn594ThrfsTer8 | |
| ENST00000647123.1:n.2146del | ||
| ENST00000647227.1:c.1827del | ||
| ENST00000647302.1:n.2839del | ||
| ENST00000647476.1:n.3399del | ||
| ENST00000647491.1:n.1933del | ||
| ENST00000268704.6:c.2189del | ENSP00000268704.2:p.Asn730ThrfsTer8 | |
| ENST00000561702.5:n.1174del | ||
| ENST00000561911.5:c.789del | ENSP00000457387.1:n.789del | |
| ENST00000565891.1:n.230del | ||
| ENST00000569720.1:n.380del | ||
| ENST00000569820.5:c.1431del | ||
| ENST00000620811.4:c.*235del | ENSP00000478030.1:n.*235del | |
| NM_003119.3:c.2189del | NP_003110.1:p.Asn730ThrfsTer8 | |
| XM_006721264.2:c.2397del | XP_006721327.1:p.Lys799AsnfsTer? | |
| NM_001363850.1:c.2397del | NP_001350779.1:p.Lys799AsnfsTer? | |
| XM_006721264.4:c.2397del | XP_006721327.1:p.Lys799AsnfsTer? | |
| XR_001751971.2:n.2538del | ||
| XR_001751972.2:n.3825del | ||
| NM_003119.4:c.2189del MANE Select | NP_003110.1:p.Asn730ThrfsTer8 |