Linked Data
dbSNP Id:
rs781340414
ExAC:
6:10529512 TCTA / T
gnomAD v2:
6-10529512-TCTA-T
gnomAD v3:
6-10529279-TCTA-T
gnomAD v4:
6-10529279-TCTA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10529282_10529284del , CM000668.2:g.10529282_10529284del | GRCh38 |
| NC_000006.11:g.10529515_10529517del , CM000668.1:g.10529515_10529517del | GRCh37 |
| NC_000006.10:g.10637501_10637503del | NCBI36 |
| NG_007469.3:g.42060_42062del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397423.7:n.484+441_484+443del | ||
| ENST00000495262.7:c.371_373del MANE Select | ENSP00000419411.2:p.Tyr124del | |
| ENST00000379597.7:c.371_373del | ENSP00000368917.3:p.Tyr124del | |
| ENST00000397423.6:n.484+441_484+443del | ||
| ENST00000410107.5:c.67+20124_67+20126del | ENSP00000386321.1:n.67+20124_67+20126del | |
| ENST00000474518.1:n.508+441_508+443del | ||
| ENST00000474983.5:n.948_950del | ||
| ENST00000475577.5:n.254+1622_254+1624del | ||
| ENST00000483204.1:n.947_949del | ||
| ENST00000489225.5:n.283+36351_283+36353del | ||
| ENST00000489819.5:n.175+7688_175+7690del | ||
| ENST00000495262.5:c.371_373del | ENSP00000419411.1:p.Tyr124del | |
| NM_145649.4:c.371_373del | NP_663624.1:p.Tyr124del | |
| XM_005248999.2:c.140_142del | XP_005249056.1:p.Tyr47del | |
| XM_006715052.2:c.371_373del | XP_006715115.1:p.Tyr124del | |
| XM_006715053.2:c.371_373del | XP_006715116.1:p.Tyr124del | |
| XM_011514465.1:c.371_373del | XP_011512767.1:p.Tyr124del | |
| XM_011514467.1:c.140_142del | XP_011512769.1:p.Tyr47del | |
| XM_011514468.1:c.371_373del | XP_011512770.1:p.Tyr124del | |
| XR_926136.1:n.922_924del | ||
| XM_006715052.3:c.371_373del | XP_006715115.1:p.Tyr124del | |
| XM_011514468.3:c.371_373del | XP_011512770.1:p.Tyr124del | |
| XM_017010732.2:c.371_373del | XP_016866221.1:p.Tyr124del | |
| XR_002956275.1:n.922_924del | ||
| XR_926136.2:n.920_922del | ||
| NM_001374747.1:c.371_373del | NP_001361676.1:p.Tyr124del | |
| NM_145649.5:c.371_373del MANE Select | NP_663624.1:p.Tyr124del |