Linked Data
dbSNP Id:
rs778787323
ExAC:
2:26690305 TTTC / T
gnomAD v2:
2-26690305-TTTC-T
gnomAD v3:
2-26467437-TTTC-T
gnomAD v4:
2-26467437-TTTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26467448_26467450del , CM000664.2:g.26467448_26467450del | GRCh38 |
| NC_000002.11:g.26690316_26690318del , CM000664.1:g.26690316_26690318del | GRCh37 |
| NC_000002.10:g.26543820_26543822del | NCBI36 |
| NG_009937.1:g.96259_96261del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.4152_4154del MANE Select | ENSP00000272371.2:p.Lys1385del | |
| ENST00000339598.8:c.1851_1853del MANE Plus Clinical | ENSP00000344521.3:p.Lys618del | |
| ENST00000402415.8:c.1911_1913del | ENSP00000383906.4:p.Lys638del | |
| ENST00000272371.6:c.4152_4154del | ENSP00000272371.2:p.Lys1385del | |
| ENST00000338581.10:c.1851_1853del | ENSP00000345137.6:p.Lys618del | |
| ENST00000339598.7:c.1851_1853del | ENSP00000344521.3:p.Lys618del | |
| ENST00000402415.7:c.2082_2084del | ENSP00000383906.3:p.Lys695del | |
| ENST00000403946.7:c.4152_4154del | ENSP00000385255.3:p.Lys1385del | |
| NM_001287489.1:c.4152_4154del | NP_001274418.1:p.Lys1385del | |
| NM_004802.3:c.1851_1853del | NP_004793.2:p.Lys618del | |
| NM_194248.2:c.4152_4154del | NP_919224.1:p.Lys1385del | |
| NM_194322.2:c.2082_2084del | NP_919303.1:p.Lys695del | |
| NM_194323.2:c.1851_1853del | NP_919304.1:p.Lys618del | |
| XM_005264644.2:c.4137_4139del | XP_005264701.1:p.Lys1380del | |
| XM_011533185.1:c.4197_4199del | XP_011531487.1:p.Lys1400del | |
| XM_017005338.1:c.4092_4094del | XP_016860827.1:p.Lys1365del | |
| NM_001287489.2:c.4152_4154del | NP_001274418.1:p.Lys1385del | |
| NM_004802.4:c.1851_1853del | NP_004793.2:p.Lys618del | |
| NM_194248.3:c.4152_4154del MANE Select | NP_919224.1:p.Lys1385del | |
| NM_194322.3:c.2082_2084del | NP_919303.1:p.Lys695del | |
| NM_194323.3:c.1851_1853del MANE Plus Clinical | NP_919304.1:p.Lys618del |