Linked Data
dbSNP Id:
rs1651887562
gnomAD v3:
1-119421863-ACACCAGTAG-A
gnomAD v4:
1-119421863-ACACCAGTAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119421866_119421874del , CM000663.2:g.119421866_119421874del | GRCh38 |
| NC_000001.10:g.119964489_119964497del , CM000663.1:g.119964489_119964497del | GRCh37 |
| NC_000001.9:g.119766012_119766020del | NCBI36 |
| NG_013349.1:g.11936_11944del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369416.4:c.365_373del MANE Select | ENSP00000358424.3:p.Thr122_Ser124del | |
| ENST00000369416.3:c.365_373del | ENSP00000358424.3:p.Thr122_Ser124del | |
| ENST00000433745.5:c.365_373del | ENSP00000388292.1:p.Thr122_Ser124del | |
| ENST00000448448.2:n.309_317del | ||
| ENST00000543831.5:c.365_373del | ENSP00000445122.1:p.Thr122_Ser124del | |
| NM_000198.3:c.365_373del | NP_000189.1:p.Thr122_Ser124del | |
| NM_001166120.1:c.365_373del | NP_001159592.1:p.Thr122_Ser124del | |
| NM_000198.4:c.365_373del MANE Select | NP_000189.1:p.Thr122_Ser124del | |
| NM_001166120.2:c.365_373del | NP_001159592.1:p.Thr122_Ser124del |