Linked Data
ClinVar Variation Id:
1029518
ClinVar RCV Id:
RCV001330824
dbSNP Id:
rs1240081512
gnomAD v2:
1-197093344-TATTA-T
gnomAD v4:
1-197124214-TATTA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197124217_197124220del , CM000663.2:g.197124217_197124220del | GRCh38 |
| NC_000001.10:g.197093347_197093350del , CM000663.1:g.197093347_197093350del | GRCh37 |
| NC_000001.9:g.195359970_195359973del | NCBI36 |
| NG_015867.1:g.27477_27480del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.1324_1327del | ||
| ENST00000367409.9:c.3282_3285del MANE Select | ENSP00000356379.4:p.Asn1095ArgfsTer18 | |
| ENST00000680112.1:n.1338_1341del | ||
| ENST00000680265.1:c.3282_3285del | ENSP00000505384.1:p.Asn1095ArgfsTer18 | |
| ENST00000680710.1:c.3282_3285del | ENSP00000506676.1:p.Asn1095ArgfsTer18 | |
| ENST00000681879.1:c.3282_3285del | ENSP00000505363.1:p.Asn1095ArgfsTer18 | |
| ENST00000294732.11:c.3282_3285del | ENSP00000294732.7:p.Asn1095ArgfsTer18 | |
| ENST00000367408.5:c.1032_1035del | ENSP00000356378.1:p.Asn345ArgfsTer18 | |
| ENST00000367409.8:c.3282_3285del | ENSP00000356379.4:p.Asn1095ArgfsTer18 | |
| ENST00000612785.1:c.561+19473_561+19476del | ENSP00000479244.1:n.561+19473_561+19476del | |
| NM_001206846.1:c.3282_3285del | NP_001193775.1:p.Asn1095ArgfsTer18 | |
| NM_018136.4:c.3282_3285del | NP_060606.3:p.Asn1095ArgfsTer18 | |
| NM_018136.5:c.3282_3285del MANE Select | NP_060606.3:p.Asn1095ArgfsTer18 | |
| NM_001206846.2:c.3282_3285del | NP_001193775.1:p.Asn1095ArgfsTer18 |