Linked Data
dbSNP Id:
rs1450772047
gnomAD v2:
20-31024341-TCTC-T
gnomAD v3:
20-32436538-TCTC-T
gnomAD v4:
20-32436538-TCTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32436540_32436542del , CM000682.2:g.32436540_32436542del | GRCh38 |
| NC_000020.10:g.31024343_31024345del , CM000682.1:g.31024343_31024345del | GRCh37 |
| NC_000020.9:g.30488004_30488006del | NCBI36 |
| NG_027868.1:g.83197_83199del , LRG_630:g.83197_83199del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375687.10:c.3828_3830del MANE Select | ENSP00000364839.4:p.Pro1277del | |
| ENST00000646985.1:c.3645_3647del | ENSP00000495053.1:p.Pro1216del | |
| ENST00000647223.1:n.6181_6183del | ||
| ENST00000651418.1:c.1870-1890_1870-1888del | ENSP00000499150.1:n.1870-1890_1870-1888del | |
| ENST00000306058.9:c.3813_3815del | ENSP00000305119.5:p.Pro1272del | |
| ENST00000375687.8:c.3828_3830del | ENSP00000364839.4:p.Pro1277del | |
| ENST00000613218.4:c.3828_3830del | ENSP00000480487.1:p.Pro1277del | |
| ENST00000620121.4:c.3828_3830del | ENSP00000481978.1:p.Pro1277del | |
| NM_015338.5:c.3828_3830del , LRG_630t1:c.3828_3830del | NP_056153.2:p.Pro1277del | |
| XM_006723727.2:c.3825_3827del | XP_006723790.1:p.Pro1276del | |
| XM_006723728.2:c.3798_3800del | XP_006723791.1:p.Pro1267del | |
| XM_006723730.2:c.3744_3746del | XP_006723793.1:p.Pro1249del | |
| XM_006723732.2:c.3645_3647del | XP_006723795.1:p.Pro1216del | |
| XM_006723733.1:c.3144_3146del | XP_006723796.1:p.Pro1049del | |
| XM_011528647.1:c.4092_4094del | XP_011526949.1:p.Pro1365del | |
| XM_011528648.1:c.4089_4091del | XP_011526950.1:p.Pro1364del | |
| XM_011528649.1:c.4008_4010del | XP_011526951.1:p.Pro1337del | |
| XM_011528650.1:c.3939_3941del | XP_011526952.1:p.Pro1314del | |
| XM_011528651.1:c.3807_3809del | XP_011526953.1:p.Pro1270del | |
| XM_011528652.1:c.3744_3746del | XP_011526954.1:p.Pro1249del | |
| NM_001363734.1:c.3645_3647del | NP_001350663.1:p.Pro1216del | |
| XM_006723727.3:c.3825_3827del | XP_006723790.1:p.Pro1276del | |
| XM_006723728.3:c.3798_3800del | XP_006723791.1:p.Pro1267del | |
| XM_006723730.4:c.3744_3746del | XP_006723793.1:p.Pro1249del | |
| XM_011528648.3:c.4089_4091del | XP_011526950.1:p.Pro1364del | |
| XM_011528652.2:c.3744_3746del | XP_011526954.1:p.Pro1249del | |
| XM_017027704.1:c.3744_3746del | XP_016883193.1:p.Pro1249del | |
| XM_017027705.1:c.3744_3746del | XP_016883194.1:p.Pro1249del | |
| XM_017027706.1:c.3675_3677del | XP_016883195.1:p.Pro1226del | |
| NM_015338.6:c.3828_3830del MANE Select | NP_056153.2:p.Pro1277del |