Linked Data
dbSNP Id:
rs1375602879
gnomAD v3:
3-50243643-ATCTTG-A
gnomAD v4:
3-50243643-ATCTTG-A
MyVariant Identifiers:
chr3:g.50243644_50243648del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50243646_50243650del , CM000665.2:g.50243646_50243650del | GRCh38 |
| NC_000003.11:g.50281078_50281082del , CM000665.1:g.50281078_50281082del | GRCh37 |
| NC_000003.10:g.50256082_50256086del | NCBI36 |
| NG_016002.2:g.21959_21963del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313601.11:c.118+7193_118+7197del MANE Select | ENSP00000312999.6:n.118+7193_118+7197del | |
| ENST00000266027.9:c.-38-8454_-38-8450del | ENSP00000266027.6:n.-38-8454_-38-8450del | |
| ENST00000313601.10:c.118+7193_118+7197del | ENSP00000312999.6:n.118+7193_118+7197del | |
| ENST00000422163.5:c.71-8454_71-8450del | ENSP00000406871.1:n.71-8454_71-8450del | |
| ENST00000440628.5:c.-39+5230_-39+5234del | ENSP00000395736.1:n.-39+5230_-39+5234del | |
| ENST00000441156.5:c.118+7193_118+7197del | ENSP00000394321.1:n.118+7193_118+7197del | |
| ENST00000446079.5:c.71-7974_71-7970del | ENSP00000406065.1:n.71-7974_71-7970del | |
| ENST00000491100.5:n.1935-8454_1935-8450del | ||
| NM_001282617.1:c.-38-8454_-38-8450del | NP_001269546.1:n.-38-8454_-38-8450del | |
| NM_001282618.1:c.-83+7193_-83+7197del | NP_001269547.1:n.-83+7193_-83+7197del | |
| NM_001282619.1:c.-54-7974_-54-7970del | NP_001269548.1:n.-54-7974_-54-7970del | |
| NM_001282620.1:c.71-8454_71-8450del | NP_001269549.1:n.71-8454_71-8450del | |
| NM_002070.3:c.118+7193_118+7197del | NP_002061.1:n.118+7193_118+7197del | |
| NM_002070.4:c.118+7193_118+7197del MANE Select | NP_002061.1:n.118+7193_118+7197del | |
| NM_001282618.2:c.-83+7193_-83+7197del | NP_001269547.1:n.-83+7193_-83+7197del | |
| NM_001282619.2:c.-54-7974_-54-7970del | NP_001269548.1:n.-54-7974_-54-7970del | |
| NM_001282620.2:c.71-8454_71-8450del | NP_001269549.1:n.71-8454_71-8450del | |
| NM_001282617.2:c.-38-8454_-38-8450del | NP_001269546.1:n.-38-8454_-38-8450del |