Linked Data
gnomAD v2:
2-25463223-TTCTCAAAGAGCCAGAAGAAGG-T
gnomAD v4:
2-25240354-TTCTCAAAGAGCCAGAAGAAGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25240355_25240375del , CM000664.2:g.25240355_25240375del | GRCh38 |
| NC_000002.11:g.25463224_25463244del , CM000664.1:g.25463224_25463244del | GRCh37 |
| NC_000002.10:g.25316728_25316748del | NCBI36 |
| NG_029465.2:g.107216_107236del , LRG_459:g.107216_107236del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474887.6:c.568_588del | ||
| ENST00000683393.1:c.1395_1415del | ENSP00000508654.1:n.1395_1415del | |
| ENST00000683760.1:c.1580_1600del | ENSP00000507765.1:p.Pro527_Asn534delinsHis | |
| ENST00000321117.10:c.2249_2269del MANE Select | ENSP00000324375.5:p.Pro750_Asn757delinsHis | |
| ENST00000264709.7:c.2249_2269del | ENSP00000264709.3:p.Pro750_Asn757delinsHis | |
| ENST00000321117.9:c.2249_2269del | ENSP00000324375.5:p.Pro750_Asn757delinsHis | |
| ENST00000380746.8:c.1682_1702del | ENSP00000370122.4:p.Pro561_Asn568delinsHis | |
| ENST00000380756.7:c.2249_2269del | ENSP00000370132.3:p.Pro750_Asn757delinsHis | |
| ENST00000402667.1:c.1580_1600del | ENSP00000384237.1:p.Pro527_Asn534delinsHis | |
| ENST00000461228.1:n.468_488del | ||
| ENST00000466601.5:n.621_641del | ||
| ENST00000474887.5:n.568_588del | ||
| ENST00000482935.5:n.249_269del | ||
| ENST00000491288.5:n.310+265_310+285del | ||
| NM_022552.4:c.2249_2269del , LRG_459t1:c.2249_2269del | NP_072046.2:p.Pro750_Asn757delinsHis | |
| NM_153759.3:c.1682_1702del , LRG_459t2:c.1682_1702del | NP_715640.2:p.Pro561_Asn568delinsHis | |
| NM_175629.2:c.2249_2269del , LRG_459t4:c.2249_2269del | NP_783328.1:p.Pro750_Asn757delinsHis | |
| XM_005264175.3:c.2249_2269del | XP_005264232.1:p.Pro750_Asn757delinsHis | |
| XM_005264177.3:c.1580_1600del | XP_005264234.1:p.Pro527_Asn534delinsHis | |
| XM_006711957.2:c.2249_2269del | XP_006712020.1:p.Pro750_Asn757delinsHis | |
| XM_006711958.2:c.1805_1825del | XP_006712021.1:p.Pro602_Asn609delinsHis | |
| XM_011532662.1:c.2102_2122del | XP_011530964.1:p.Pro701_Asn708delinsHis | |
| XM_011532663.1:c.2084_2104del | XP_011530965.1:p.Pro695_Asn702delinsHis | |
| XM_011532664.1:c.2249_2269del | XP_011530966.1:p.Pro750_Asn757delinsHis | |
| XM_011532665.1:c.1793_1813del | XP_011530967.1:p.Pro598_Asn605delinsHis | |
| XM_011532666.1:c.1721_1741del | XP_011530968.1:p.Pro574_Asn581delinsHis | |
| XM_011532667.1:c.1580_1600del | XP_011530969.1:p.Pro527_Asn534delinsHis | |
| XM_011532668.1:c.2249_2269del | XP_011530970.1:p.Pro750_Asn757delinsHis | |
| NM_001320893.1:c.1793_1813del | NP_001307822.1:p.Pro598_Asn605delinsHis | |
| NR_135490.1:n.2587_2607del | ||
| XM_005264175.5:c.2249_2269del | XP_005264232.1:p.Pro750_Asn757delinsHis | |
| XM_005264177.4:c.1580_1600del | XP_005264234.1:p.Pro527_Asn534delinsHis | |
| XM_011532662.2:c.2102_2122del | XP_011530964.1:p.Pro701_Asn708delinsHis | |
| XM_011532663.2:c.2084_2104del | XP_011530965.1:p.Pro695_Asn702delinsHis | |
| XM_011532664.2:c.2249_2269del | XP_011530966.1:p.Pro750_Asn757delinsHis | |
| XM_011532666.2:c.1721_1741del | XP_011530968.1:p.Pro574_Asn581delinsHis | |
| XM_011532667.3:c.1580_1600del | XP_011530969.1:p.Pro527_Asn534delinsHis | |
| XM_017003526.1:c.2249_2269del | XP_016859015.1:p.Pro750_Asn757delinsHis | |
| XM_017003527.1:c.1580_1600del | XP_016859016.1:p.Pro527_Asn534delinsHis | |
| XR_001738657.1:n.2526_2546del | ||
| NM_001375819.1:c.1580_1600del | NP_001362748.1:p.Pro527_Asn534delinsHis | |
| NR_135490.2:n.2480_2500del | ||
| NM_022552.5:c.2249_2269del MANE Select | NP_072046.2:p.Pro750_Asn757delinsHis |