Linked Data
dbSNP Id:
rs1391024825
gnomAD v2:
2-47693718-TTAAA-T
gnomAD v3:
2-47466579-TTAAA-T
gnomAD v4:
2-47466579-TTAAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47466583_47466586del , CM000664.2:g.47466583_47466586del | GRCh38 |
| NC_000002.11:g.47693722_47693725del , CM000664.1:g.47693722_47693725del | GRCh37 |
| NC_000002.10:g.47547226_47547229del | NCBI36 |
| NG_007110.2:g.68460_68463del , LRG_218:g.68460_68463del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644900.2:c.1511-75_1511-72del | ENSP00000495641.2:n.1511-75_1511-72del | |
| ENST00000233146.7:c.1511-75_1511-72del MANE Select | ENSP00000233146.2:n.1511-75_1511-72del | |
| ENST00000543555.6:c.1313-75_1313-72del | ENSP00000442697.1:n.1313-75_1313-72del | |
| ENST00000644092.1:c.1511-75_1511-72del | ENSP00000496351.1:n.1511-75_1511-72del | |
| ENST00000645339.1:c.1511-75_1511-72del | ENSP00000496441.1:n.1511-75_1511-72del | |
| ENST00000645506.1:c.1511-75_1511-72del | ENSP00000495455.1:n.1511-75_1511-72del | |
| ENST00000646415.1:c.1511-75_1511-72del | ENSP00000495543.1:n.1511-75_1511-72del | |
| ENST00000233146.6:c.1511-75_1511-72del | ENSP00000233146.2:n.1511-75_1511-72del | |
| ENST00000406134.5:c.1511-75_1511-72del | ENSP00000384199.1:n.1511-75_1511-72del | |
| ENST00000543555.5:c.1313-75_1313-72del | ENSP00000442697.1:n.1313-75_1313-72del | |
| ENST00000610696.4:c.1511-75_1511-72del | ENSP00000483159.1:n.1511-75_1511-72del | |
| ENST00000613514.4:c.*51-75_*51-72del | ENSP00000484137.1:n.*51-75_*51-72del | |
| ENST00000617333.3:c.*277-75_*277-72del | ENSP00000482468.1:n.*277-75_*277-72del | |
| ENST00000617938.4:c.*483-75_*483-72del | ENSP00000481158.1:n.*483-75_*483-72del | |
| ENST00000621359.2:c.1511-75_1511-72del | ENSP00000481416.1:n.1511-75_1511-72del | |
| NM_000251.2:c.1511-75_1511-72del , LRG_218t1:c.1511-75_1511-72del | NP_000242.1:n.1511-75_1511-72del | |
| NM_001258281.1:c.1313-75_1313-72del | NP_001245210.1:n.1313-75_1313-72del | |
| XM_005264332.2:c.1511-75_1511-72del | XP_005264389.2:n.1511-75_1511-72del | |
| XM_011532867.1:c.1511-75_1511-72del | XP_011531169.1:n.1511-75_1511-72del | |
| XR_939685.1:n.1583-75_1583-72del | ||
| XM_005264332.4:c.1511-75_1511-72del | XP_005264389.2:n.1511-75_1511-72del | |
| XM_011532867.2:c.1511-75_1511-72del | XP_011531169.1:n.1511-75_1511-72del | |
| XR_001738747.2:n.1573-75_1573-72del | ||
| XR_939685.2:n.1573-75_1573-72del | ||
| NM_000251.3:c.1511-75_1511-72del MANE Select | NP_000242.1:n.1511-75_1511-72del |