Linked Data
dbSNP Id:
rs757193704
ExAC:
2:26690262 TCTC / T
gnomAD v2:
2-26690262-TCTC-T
gnomAD v4:
2-26467394-TCTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26467395_26467397del , CM000664.2:g.26467395_26467397del | GRCh38 |
| NC_000002.11:g.26690263_26690265del , CM000664.1:g.26690263_26690265del | GRCh37 |
| NC_000002.10:g.26543767_26543769del | NCBI36 |
| NG_009937.1:g.96302_96304del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.4195_4197del MANE Select | ENSP00000272371.2:p.Glu1399del | |
| ENST00000339598.8:c.1894_1896del MANE Plus Clinical | ENSP00000344521.3:p.Glu632del | |
| ENST00000402415.8:c.1954_1956del | ENSP00000383906.4:p.Glu652del | |
| ENST00000272371.6:c.4195_4197del | ENSP00000272371.2:p.Glu1399del | |
| ENST00000338581.10:c.1894_1896del | ENSP00000345137.6:p.Glu632del | |
| ENST00000339598.7:c.1894_1896del | ENSP00000344521.3:p.Glu632del | |
| ENST00000402415.7:c.2125_2127del | ENSP00000383906.3:p.Glu709del | |
| ENST00000403946.7:c.4195_4197del | ENSP00000385255.3:p.Glu1399del | |
| NM_001287489.1:c.4195_4197del | NP_001274418.1:p.Glu1399del | |
| NM_004802.3:c.1894_1896del | NP_004793.2:p.Glu632del | |
| NM_194248.2:c.4195_4197del | NP_919224.1:p.Glu1399del | |
| NM_194322.2:c.2125_2127del | NP_919303.1:p.Glu709del | |
| NM_194323.2:c.1894_1896del | NP_919304.1:p.Glu632del | |
| XM_005264644.2:c.4180_4182del | XP_005264701.1:p.Glu1394del | |
| XM_011533185.1:c.4240_4242del | XP_011531487.1:p.Glu1414del | |
| XM_017005338.1:c.4135_4137del | XP_016860827.1:p.Glu1379del | |
| NM_001287489.2:c.4195_4197del | NP_001274418.1:p.Glu1399del | |
| NM_004802.4:c.1894_1896del | NP_004793.2:p.Glu632del | |
| NM_194248.3:c.4195_4197del MANE Select | NP_919224.1:p.Glu1399del | |
| NM_194322.3:c.2125_2127del | NP_919303.1:p.Glu709del | |
| NM_194323.3:c.1894_1896del MANE Plus Clinical | NP_919304.1:p.Glu632del |