Linked Data
dbSNP Id:
rs1553703121
gnomAD v2:
3-50293601-A-AC
gnomAD v3:
3-50256169-A-AC
gnomAD v4:
3-50256169-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50256172dup , CM000665.2:g.50256172dup | GRCh38 |
| NC_000003.11:g.50293604dup , CM000665.1:g.50293604dup | GRCh37 |
| NC_000003.10:g.50268608dup | NCBI36 |
| NG_016002.2:g.34485dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313601.11:c.465-20dup MANE Select | ENSP00000312999.6:n.465-20dup | |
| ENST00000266027.9:c.309-20dup | ENSP00000266027.6:n.309-20dup | |
| ENST00000313601.10:c.465-20dup | ENSP00000312999.6:n.465-20dup | |
| ENST00000422163.5:c.417-20dup | ENSP00000406871.1:n.417-20dup | |
| ENST00000440628.5:c.309-20dup | ENSP00000395736.1:n.309-20dup | |
| ENST00000441156.5:c.422-20dup | ENSP00000394321.1:n.422-20dup | |
| ENST00000446079.5:c.*100-20dup | ENSP00000406065.1:n.*100-20dup | |
| ENST00000451956.1:c.354-20dup | ENSP00000406369.1:n.354-20dup | |
| ENST00000468422.1:n.32-20dup | ||
| ENST00000490122.5:n.1292-20dup | ||
| ENST00000491100.5:n.2281-20dup | ||
| NM_001166425.1:c.354-20dup | NP_001159897.1:n.354-20dup | |
| NM_001282617.1:c.309-20dup | NP_001269546.1:n.309-20dup | |
| NM_001282618.1:c.222-20dup | NP_001269547.1:n.222-20dup | |
| NM_001282619.1:c.417-20dup | NP_001269548.1:n.417-20dup | |
| NM_001282620.1:c.417-20dup | NP_001269549.1:n.417-20dup | |
| NM_002070.3:c.465-20dup | NP_002061.1:n.465-20dup | |
| NM_002070.4:c.465-20dup MANE Select | NP_002061.1:n.465-20dup | |
| NM_001166425.2:c.354-20dup | NP_001159897.1:n.354-20dup | |
| NM_001282618.2:c.222-20dup | NP_001269547.1:n.222-20dup | |
| NM_001282619.2:c.417-20dup | NP_001269548.1:n.417-20dup | |
| NM_001282620.2:c.417-20dup | NP_001269549.1:n.417-20dup | |
| NM_001282617.2:c.309-20dup | NP_001269546.1:n.309-20dup |