Linked Data
ClinVar Variation Id:
2891781
ClinVar RCV Id:
RCV003725119
dbSNP Id:
rs1425097423
gnomAD v4:
1-102946943-TCTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102946946_102946948del , CM000663.2:g.102946946_102946948del | GRCh38 |
| NC_000001.10:g.103412502_103412504del , CM000663.1:g.103412502_103412504del | GRCh37 |
| NC_000001.9:g.103185090_103185092del | NCBI36 |
| NG_008033.1:g.166551_166553del | |
| NG_008033.2:g.166551_166553del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.3179_3181del MANE Select | ENSP00000359114.3:p.Gly1060del | |
| ENST00000353414.8:c.3062_3064del | ENSP00000302551.6:p.Gly1021del | |
| ENST00000358392.6:c.3215_3217del | ENSP00000351163.2:p.Gly1072del | |
| ENST00000370096.7:c.3179_3181del | ENSP00000359114.3:p.Gly1060del | |
| ENST00000512756.5:c.2831_2833del | ENSP00000426533.1:p.Gly944del | |
| ENST00000635193.1:c.2513_2515del | ||
| NM_001190709.1:c.3062_3064del | NP_001177638.1:p.Gly1021del | |
| NM_001854.3:c.3179_3181del | NP_001845.3:p.Gly1060del | |
| NM_080629.2:c.3215_3217del | NP_542196.2:p.Gly1072del | |
| NM_080630.3:c.2831_2833del | NP_542197.3:p.Gly944del | |
| XM_011540719.1:c.3179_3181del | XP_011539021.1:p.Gly1060del | |
| XM_011540720.1:c.1412_1414del | XP_011539022.1:p.Gly471del | |
| XM_011540721.1:c.767_769del | XP_011539023.1:p.Gly256del | |
| NR_134980.1:n.3513_3515del | ||
| XM_017000334.1:c.3332_3334del | XP_016855823.1:p.Gly1111del | |
| XM_017000335.1:c.3326_3328del | XP_016855824.1:p.Gly1109del | |
| XM_017000336.1:c.3332_3334del | XP_016855825.1:p.Gly1111del | |
| XM_017000337.1:c.1730_1732del | XP_016855826.1:p.Gly577del | |
| NM_001854.4:c.3179_3181del MANE Select | NP_001845.3:p.Gly1060del | |
| NM_080630.4:c.2831_2833del | NP_542197.3:p.Gly944del | |
| NR_134980.2:n.3539_3541del | ||
| NM_001190709.2:c.3062_3064del | NP_001177638.1:p.Gly1021del | |
| NM_080629.3:c.3215_3217del | NP_542196.2:p.Gly1072del |