Linked Data
ClinVar Variation Id:
567845
ClinVar RCV Id:
RCV002473106
dbSNP Id:
rs780534566
ExAC:
7:143047669 CCT / C
gnomAD v2:
7-143047669-CCT-C
gnomAD v4:
7-143350576-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143350577_143350578del , CM000669.2:g.143350577_143350578del | GRCh38 |
| NC_000007.13:g.143047670_143047671del , CM000669.1:g.143047670_143047671del | GRCh37 |
| NC_000007.12:g.142757792_142757793del | NCBI36 |
| NG_009815.1:g.39452_39453del | |
| NG_009815.2:g.39452_39453del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650516.2:c.2518_2519del | ENSP00000498052.2:p.Leu840ValfsTer? | |
| ENST00000343257.7:c.2518_2519del MANE Select | ENSP00000339867.2:p.Leu840ValfsTer? | |
| ENST00000432192.6:c.2342_2343del | ||
| ENST00000343257.6:c.2518_2519del | ENSP00000339867.2:p.Leu840ValfsTer? | |
| NM_000083.2:c.2518_2519del | NP_000074.2:p.Leu840ValfsTer? | |
| NR_046453.1:n.2458_2459del | ||
| XM_011515781.1:c.2542_2543del | XP_011514083.1:p.Leu848ValfsTer? | |
| XM_011515782.1:c.1264_1265del | XP_011514084.1:p.Leu422ValfsTer? | |
| XM_011515782.2:c.1264_1265del | XP_011514084.1:p.Leu422ValfsTer? | |
| XM_017011739.1:c.2092_2093del | XP_016867228.1:p.Leu698ValfsTer? | |
| XM_017011740.1:c.2068_2069del | XP_016867229.1:p.Leu690ValfsTer? | |
| NM_000083.3:c.2518_2519del MANE Select | NP_000074.3:p.Leu840ValfsTer? | |
| NR_046453.2:n.2473_2474del |