Linked Data
dbSNP Id:
rs1178416650
gnomAD v2:
3-50281131-T-TG
gnomAD v3:
3-50243699-T-TG
gnomAD v4:
3-50243699-T-TG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50243701dup , CM000665.2:g.50243701dup | GRCh38 |
| NC_000003.11:g.50281133dup , CM000665.1:g.50281133dup | GRCh37 |
| NC_000003.10:g.50256137dup | NCBI36 |
| NG_016002.2:g.22014dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313601.11:c.118+7248dup MANE Select | ENSP00000312999.6:n.118+7248dup | |
| ENST00000266027.9:c.-38-8399dup | ENSP00000266027.6:n.-38-8399dup | |
| ENST00000313601.10:c.118+7248dup | ENSP00000312999.6:n.118+7248dup | |
| ENST00000422163.5:c.71-8399dup | ENSP00000406871.1:n.71-8399dup | |
| ENST00000440628.5:c.-39+5285dup | ENSP00000395736.1:n.-39+5285dup | |
| ENST00000441156.5:c.118+7248dup | ENSP00000394321.1:n.118+7248dup | |
| ENST00000446079.5:c.71-7919dup | ENSP00000406065.1:n.71-7919dup | |
| ENST00000491100.5:n.1935-8399dup | ||
| NM_001282617.1:c.-38-8399dup | NP_001269546.1:n.-38-8399dup | |
| NM_001282618.1:c.-83+7248dup | NP_001269547.1:n.-83+7248dup | |
| NM_001282619.1:c.-54-7919dup | NP_001269548.1:n.-54-7919dup | |
| NM_001282620.1:c.71-8399dup | NP_001269549.1:n.71-8399dup | |
| NM_002070.3:c.118+7248dup | NP_002061.1:n.118+7248dup | |
| NM_002070.4:c.118+7248dup MANE Select | NP_002061.1:n.118+7248dup | |
| NM_001282618.2:c.-83+7248dup | NP_001269547.1:n.-83+7248dup | |
| NM_001282619.2:c.-54-7919dup | NP_001269548.1:n.-54-7919dup | |
| NM_001282620.2:c.71-8399dup | NP_001269549.1:n.71-8399dup | |
| NM_001282617.2:c.-38-8399dup | NP_001269546.1:n.-38-8399dup |