Linked Data
ClinVar Variation Id:
126715
ClinVar RCV Id:
RCV000001309
RCV000114595
RCV000114596
RCV000114597
RCV000131150
RCV000235691
RCV001357097
RCV002498485
RCV003149787
dbSNP Id:
rs180177133
gnomAD v2:
16-23625409-AT-A
gnomAD v3:
16-23614088-AT-A
gnomAD v4:
16-23614088-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23614090del , CM000678.2:g.23614090del | GRCh38 |
| NC_000016.9:g.23625411del , CM000678.1:g.23625411del | GRCh37 |
| NC_000016.8:g.23532912del | NCBI36 |
| NG_007406.1:g.32269del , LRG_308:g.32269del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000561514.3:c.3122del | ENSP00000460666.3:p.Asn1041IlefsTer2 | |
| ENST00000565038.2:c.*597del | ENSP00000459882.2:n.*597del | |
| ENST00000566069.6:c.3116del | ENSP00000459237.2:p.Asn1039IlefsTer2 | |
| ENST00000697377.2:c.2960del | ENSP00000513286.2:p.Asn987IlefsTer2 | |
| ENST00000697379.2:c.3122del | ENSP00000513287.2:p.Asn1041IlefsTer2 | |
| ENST00000561514.2:c.2231del | ENSP00000460666.2:p.Asn744IlefsTer2 | |
| ENST00000697374.1:c.2231del | ENSP00000513284.1:p.Asn744IlefsTer2 | |
| ENST00000697375.1:n.4463del | ||
| ENST00000697376.1:c.2231del | ENSP00000513285.1:p.Asn744IlefsTer2 | |
| ENST00000697377.1:c.2069del | ENSP00000513286.1:p.Asn690IlefsTer2 | |
| ENST00000697378.1:n.3636del | ||
| ENST00000697379.1:c.2231del | ENSP00000513287.1:p.Asn744IlefsTer2 | |
| ENST00000697380.1:n.2406-6077del | ||
| ENST00000697381.1:n.1811del | ||
| ENST00000697382.1:c.2229-6077del | ENSP00000513288.1:n.2229-6077del | |
| ENST00000697383.1:c.650del | ENSP00000513289.1:p.Asn217IlefsTer2 | |
| ENST00000261584.9:c.3116del MANE Select | ENSP00000261584.4:p.Asn1039IlefsTer2 | |
| ENST00000261584.8:c.3116del | ENSP00000261584.4:p.Asn1039IlefsTer2 | |
| ENST00000566069.5:c.31del | ||
| ENST00000568219.5:c.2231del | ENSP00000454703.2:p.Asn744IlefsTer2 | |
| NM_024675.3:c.3116del , LRG_308t1:c.3116del | NP_078951.2:p.Asn1039IlefsTer2 | |
| XM_011545946.1:c.3122del | XP_011544248.1:p.Asn1041IlefsTer2 | |
| XM_011545947.1:c.3122del | XP_011544249.1:p.Asn1041IlefsTer2 | |
| XM_011545948.1:c.2231del | XP_011544250.1:p.Asn744IlefsTer2 | |
| XR_950851.1:n.3910-6077del | ||
| XM_011545946.2:c.3122del | XP_011544248.1:p.Asn1041IlefsTer2 | |
| XM_011545947.2:c.3122del | XP_011544249.1:p.Asn1041IlefsTer2 | |
| XM_011545948.2:c.2231del | XP_011544250.1:p.Asn744IlefsTer2 | |
| XM_017023671.1:c.3119+7273del | XP_016879160.1:n.3119+7273del | |
| XM_017023672.2:c.3113+7273del | XP_016879161.1:n.3113+7273del | |
| XM_017023673.2:c.3116del | XP_016879162.1:p.Asn1039IlefsTer2 | |
| NM_024675.4:c.3116del MANE Select | NP_078951.2:p.Asn1039IlefsTer2 |