Linked Data
dbSNP Id:
rs752636419
ExAC:
4:81123481 AGCG / A
gnomAD v2:
4-81123481-AGCG-A
gnomAD v3:
4-80202327-AGCG-A
gnomAD v4:
4-80202327-AGCG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.80202342_80202344del , CM000666.2:g.80202342_80202344del | GRCh38 |
| NC_000004.11:g.81123496_81123498del , CM000666.1:g.81123496_81123498del | GRCh37 |
| NC_000004.10:g.81342520_81342522del | NCBI36 |
| NG_046725.1:g.22073_22075del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415738.3:c.880_882del MANE Select | ENSP00000406998.2:p.Gly294del | |
| ENST00000339711.8:c.880_882del | ENSP00000339764.4:p.Gly294del | |
| ENST00000415738.2:c.880_882del | ENSP00000406998.2:p.Gly294del | |
| ENST00000504452.5:c.880_882del | ENSP00000423985.1:p.Gly294del | |
| ENST00000515013.5:c.880_882del | ENSP00000425149.1:p.Gly294del | |
| NM_001099403.1:c.880_882del | NP_001092873.1:p.Gly294del | |
| NM_020226.3:c.880_882del | NP_064611.3:p.Gly294del | |
| XM_005263144.2:c.883_885del | XP_005263201.1:p.Gly295del | |
| XM_005263145.2:c.883_885del | XP_005263202.1:p.Gly295del | |
| XM_005263146.3:c.880_882del | XP_005263203.1:p.Gly294del | |
| XM_011532133.1:c.1723_1725del | XP_011530435.1:p.Gly575del | |
| XM_011532134.1:c.1720_1722del | XP_011530436.1:p.Gly574del | |
| XM_011532135.1:c.1582_1584del | XP_011530437.1:p.Gly528del | |
| XM_011532136.1:c.1435_1437del | XP_011530438.1:p.Gly479del | |
| XM_011532137.1:c.1435_1437del | XP_011530439.1:p.Gly479del | |
| XM_011532138.1:c.1435_1437del | XP_011530440.1:p.Gly479del | |
| XM_011532139.1:c.1435_1437del | XP_011530441.1:p.Gly479del | |
| XM_011532140.1:c.1435_1437del | XP_011530442.1:p.Gly479del | |
| XM_011532141.1:c.1297_1299del | XP_011530443.1:p.Gly433del | |
| XM_011532142.1:c.1276_1278del | XP_011530444.1:p.Gly426del | |
| XM_005263146.4:c.880_882del | XP_005263203.1:p.Gly294del | |
| XM_011532133.2:c.1723_1725del | XP_011530435.1:p.Gly575del | |
| XM_011532135.2:c.1582_1584del | XP_011530437.1:p.Gly528del | |
| XM_011532140.2:c.1435_1437del | XP_011530442.1:p.Gly479del | |
| XM_011532141.3:c.1297_1299del | XP_011530443.1:p.Gly433del | |
| XM_017008468.1:c.1432_1434del | XP_016863957.1:p.Gly478del | |
| XM_017008469.1:c.1519_1521del | XP_016863958.1:p.Gly507del | |
| XM_017008470.1:c.1435_1437del | XP_016863959.1:p.Gly479del | |
| NM_001099403.2:c.880_882del MANE Select | NP_001092873.1:p.Gly294del | |
| NM_020226.4:c.880_882del | NP_064611.3:p.Gly294del |