Linked Data
ClinVar Variation Id:
623350
dbSNP Id:
rs752041565
ExAC:
7:143029842 CTTTG / C
gnomAD v2:
7-143029842-CTTTG-C
gnomAD v3:
7-143332749-CTTTG-C
gnomAD v4:
7-143332749-CTTTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143332754_143332757del , CM000669.2:g.143332754_143332757del | GRCh38 |
| NC_000007.13:g.143029847_143029850del , CM000669.1:g.143029847_143029850del | GRCh37 |
| NC_000007.12:g.142739969_142739972del | NCBI36 |
| NG_009815.1:g.21629_21632del | |
| NG_009815.2:g.21629_21632del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.1282_1285del | ENSP00000498052.2:p.Phe428ThrfsTer6 | |
| ENST00000343257.7:c.1282_1285del MANE Select | ENSP00000339867.2:p.Phe428ThrfsTer6 | |
| ENST00000432192.6:c.1106_1109del | ||
| ENST00000343257.6:c.1282_1285del | ENSP00000339867.2:p.Phe428ThrfsTer6 | |
| NM_000083.2:c.1282_1285del | NP_000074.2:p.Phe428ThrfsTer6 | |
| NR_046453.1:n.1341+251_1341+254del | ||
| XM_011515781.1:c.1306_1309del | XP_011514083.1:p.Phe436ThrfsTer6 | |
| XM_011515782.1:c.28_31del | XP_011514084.1:p.Phe10ThrfsTer6 | |
| XM_011515782.2:c.28_31del | XP_011514084.1:p.Phe10ThrfsTer6 | |
| XM_017011739.1:c.856_859del | XP_016867228.1:p.Phe286ThrfsTer6 | |
| XM_017011740.1:c.832_835del | XP_016867229.1:p.Phe278ThrfsTer6 | |
| NM_000083.3:c.1282_1285del MANE Select | NP_000074.3:p.Phe428ThrfsTer6 | |
| NR_046453.2:n.1356+251_1356+254del |