Linked Data
ClinVar Variation Id:
408329
ClinVar RCV Id:
RCV000476558
dbSNP Id:
rs1060501923
gnomAD v3:
5-132618270-ATATT-A
gnomAD v4:
5-132618270-ATATT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132618275_132618278del , CM000667.2:g.132618275_132618278del | GRCh38 |
| NC_000005.9:g.131953967_131953970del , CM000667.1:g.131953967_131953970del | GRCh37 |
| NC_000005.8:g.131981866_131981869del | NCBI36 |
| NG_021151.1:g.66352_66355del | |
| NG_021151.2:g.66299_66302del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378823.8:c.3370_3373del MANE Select | ENSP00000368100.4:p.Tyr1124IlefsTer8 | |
| ENST00000638452.2:c.3073_3076del | ENSP00000492349.2:p.Tyr1025IlefsTer8 | |
| ENST00000638504.1:n.2978_2981del | ||
| ENST00000638568.2:c.3073_3076del | ENSP00000491158.2:p.Tyr1025IlefsTer8 | |
| ENST00000639899.1:n.3889_3892del | ||
| ENST00000640655.2:c.3073_3076del | ENSP00000491596.2:p.Tyr1025IlefsTer8 | |
| ENST00000651249.1:c.206_209del | ||
| ENST00000378823.7:c.3370_3373del | ENSP00000368100.4:p.Tyr1124IlefsTer8 | |
| ENST00000455677.1:c.5_8del | ||
| ENST00000533482.5:c.*2996_*2999del | ENSP00000431225.1:n.*2996_*2999del | |
| NM_005732.3:c.3370_3373del | NP_005723.2:p.Tyr1124IlefsTer8 | |
| NM_005732.4:c.3370_3373del MANE Select | NP_005723.2:p.Tyr1124IlefsTer8 |