Linked Data
dbSNP Id:
rs1387208538
gnomAD v2:
6-99374399-CGA-C
gnomAD v3:
6-98926523-CGA-C
gnomAD v4:
6-98926523-CGA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.98926526_98926527del , CM000668.2:g.98926526_98926527del | GRCh38 |
| NC_000006.11:g.99374402_99374403del , CM000668.1:g.99374402_99374403del | GRCh37 |
| NC_000006.10:g.99481123_99481124del | NCBI36 |
| NG_033903.1:g.26482_26483del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369244.7:c.464_465del MANE Select | ENSP00000358247.1:p.Leu155ArgfsTer14 | |
| ENST00000229971.2:c.464_465del | ENSP00000229971.1:p.Leu155ArgfsTer14 | |
| ENST00000369244.6:c.464_465del | ENSP00000358247.1:p.Leu155ArgfsTer14 | |
| NM_001278716.1:c.464_465del | NP_001265645.1:p.Leu155ArgfsTer14 | |
| NM_012160.4:c.464_465del | NP_036292.2:p.Leu155ArgfsTer14 | |
| NR_103836.1:n.855_856del | ||
| NR_103837.1:n.855_856del | ||
| XM_005266930.1:c.464_465del | XP_005266987.1:p.Leu155ArgfsTer14 | |
| XM_011535748.1:c.464_465del | XP_011534050.1:p.Leu155ArgfsTer14 | |
| XM_005266930.3:c.464_465del | XP_005266987.1:p.Leu155ArgfsTer14 | |
| XM_011535748.3:c.464_465del | XP_011534050.1:p.Leu155ArgfsTer14 | |
| XM_017010726.1:c.464_465del | XP_016866215.1:p.Leu155ArgfsTer14 | |
| XM_017010727.2:c.464_465del | XP_016866216.1:p.Leu155ArgfsTer14 | |
| XM_017010728.1:c.-339_-338del | XP_016866217.1:n.-339_-338del | |
| NM_001278716.2:c.464_465del MANE Select | NP_001265645.1:p.Leu155ArgfsTer14 | |
| NR_103836.2:n.795_796del | ||
| NR_103837.2:n.795_796del | ||
| NM_012160.5:c.464_465del | NP_036292.2:p.Leu155ArgfsTer14 |