Linked Data
dbSNP Id:
rs1266555956
gnomAD v2:
1-197727607-TGAA-T
gnomAD v3:
1-197758477-TGAA-T
gnomAD v4:
1-197758477-TGAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197758479_197758481del , CM000663.2:g.197758479_197758481del | GRCh38 |
| NC_000001.10:g.197727609_197727611del , CM000663.1:g.197727609_197727611del | GRCh37 |
| NC_000001.9:g.195994232_195994234del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620048.6:c.82+14388_82+14390del MANE Select | ENSP00000479816.1:n.82+14388_82+14390del | |
| ENST00000235453.8:c.-160+14388_-160+14390del | ENSP00000235453.4:n.-160+14388_-160+14390del | |
| ENST00000294737.11:c.82+14388_82+14390del | ENSP00000294737.7:n.82+14388_82+14390del | |
| ENST00000367396.7:c.82+14388_82+14390del | ENSP00000356366.3:n.82+14388_82+14390del | |
| ENST00000422998.1:c.18+14388_18+14390del | ENSP00000410025.1:n.18+14388_18+14390del | |
| ENST00000468589.5:n.353+14388_353+14390del | ||
| ENST00000477581.1:n.410+14388_410+14390del | ||
| ENST00000495550.5:n.186+14388_186+14390del | ||
| ENST00000620048.4:c.82+14388_82+14390del | ENSP00000479816.1:n.82+14388_82+14390del | |
| NM_001195215.1:c.82+14388_82+14390del | NP_001182144.1:n.82+14388_82+14390del | |
| NM_001195216.1:c.82+14388_82+14390del | NP_001182145.1:n.82+14388_82+14390del | |
| NM_001300858.1:c.-160+14388_-160+14390del | NP_001287787.1:n.-160+14388_-160+14390del | |
| NM_144977.4:c.82+14388_82+14390del | NP_659414.2:n.82+14388_82+14390del | |
| NR_125340.1:n.420+14388_420+14390del | ||
| XM_005244931.2:c.82+14388_82+14390del | XP_005244988.1:n.82+14388_82+14390del | |
| XM_006711192.2:c.-160+14388_-160+14390del | XP_006711255.1:n.-160+14388_-160+14390del | |
| XM_006711193.2:c.-160+14388_-160+14390del | XP_006711256.1:n.-160+14388_-160+14390del | |
| XM_011509246.1:c.226+14388_226+14390del | XP_011507548.1:n.226+14388_226+14390del | |
| XM_011509247.1:c.226+14388_226+14390del | XP_011507549.1:n.226+14388_226+14390del | |
| XM_011509248.1:c.121+14388_121+14390del | XP_011507550.1:n.121+14388_121+14390del | |
| XM_011509249.1:c.-160+14388_-160+14390del | XP_011507551.1:n.-160+14388_-160+14390del | |
| XM_011509250.1:c.-160+14388_-160+14390del | XP_011507552.1:n.-160+14388_-160+14390del | |
| XM_011509251.1:c.226+14388_226+14390del | XP_011507553.1:n.226+14388_226+14390del | |
| XM_006711193.3:c.-160+14388_-160+14390del | XP_006711256.1:n.-160+14388_-160+14390del | |
| XM_011509246.2:c.226+14388_226+14390del | XP_011507548.1:n.226+14388_226+14390del | |
| XM_011509248.2:c.121+14388_121+14390del | XP_011507550.1:n.121+14388_121+14390del | |
| XM_011509249.2:c.-160+14388_-160+14390del | XP_011507551.1:n.-160+14388_-160+14390del | |
| XM_011509251.3:c.226+14388_226+14390del | XP_011507553.1:n.226+14388_226+14390del | |
| XM_017000470.1:c.-160+14388_-160+14390del | XP_016855959.1:n.-160+14388_-160+14390del | |
| XM_017000471.1:c.-160+14388_-160+14390del | XP_016855960.1:n.-160+14388_-160+14390del | |
| XM_024453626.1:c.-462+14388_-462+14390del | XP_024309394.1:n.-462+14388_-462+14390del | |
| XM_024453627.1:c.-665+14388_-665+14390del | XP_024309395.1:n.-665+14388_-665+14390del | |
| NM_001195215.2:c.82+14388_82+14390del MANE Select | NP_001182144.1:n.82+14388_82+14390del | |
| NM_001195216.2:c.82+14388_82+14390del | NP_001182145.1:n.82+14388_82+14390del | |
| NM_001300858.2:c.-160+14388_-160+14390del | NP_001287787.1:n.-160+14388_-160+14390del | |
| NM_144977.5:c.82+14388_82+14390del | NP_659414.2:n.82+14388_82+14390del | |
| NR_125340.2:n.407+14388_407+14390del |