Linked Data
dbSNP Id:
rs1888201978
gnomAD v3:
14-23321027-T-TTCACCTG
gnomAD v4:
14-23321027-T-TTCACCTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23321032_23321038dup , CM000676.2:g.23321032_23321038dup | GRCh38 |
| NC_000014.8:g.23790241_23790247dup , CM000676.1:g.23790241_23790247dup | GRCh37 |
| NC_000014.7:g.22860081_22860087dup | NCBI36 |
| NG_008239.1:g.5845_5851dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000678502.1:c.529-1149_529-1143dup (BCL2L2-PABPN1) | ENSP00000503309.1:n.529-1149_529-1143dup | |
| ENST00000553781.5:c.433-1149_433-1143dup (BCL2L2-PABPN1) | ENSP00000451320.1:n.433-1149_433-1143dup | |
| ENST00000557008.2:c.433-1149_433-1143dup (BCL2L2-PABPN1) | ENSP00000452479.1:n.433-1149_433-1143dup | |
| NM_001199864.1:c.433-1149_433-1143dup (BCL2L2-PABPN1) | NP_001186793.1:n.433-1149_433-1143dup | |
| NM_004643.3:c.-438_-432dup (PABPN1) | NP_004634.1:n.-438_-432dup | |
| NM_001199864.2:c.433-1149_433-1143dup (BCL2L2-PABPN1) | NP_001186793.2:n.433-1149_433-1143dup | |
| NM_001199864.3:c.433-1149_433-1143dup (BCL2L2-PABPN1) | NP_001186793.2:n.433-1149_433-1143dup | |
| NM_001387340.1:c.550-1149_550-1143dup (BCL2L2-PABPN1) | NP_001374269.1:n.550-1149_550-1143dup | |
| NM_001387341.1:c.529-1149_529-1143dup (BCL2L2-PABPN1) | NP_001374270.1:n.529-1149_529-1143dup | |
| NM_001387342.1:c.529-1149_529-1143dup (BCL2L2-PABPN1) | NP_001374271.1:n.529-1149_529-1143dup | |
| NM_001387343.1:c.529-1149_529-1143dup (BCL2L2-PABPN1) | NP_001374272.1:n.529-1149_529-1143dup | |
| NM_001387344.1:c.529-1149_529-1143dup (BCL2L2-PABPN1) | NP_001374273.1:n.529-1149_529-1143dup | |
| NM_001387345.1:c.433-1149_433-1143dup (BCL2L2-PABPN1) | NP_001374274.1:n.433-1149_433-1143dup | |
| NM_001387346.1:c.433-1149_433-1143dup (BCL2L2-PABPN1) | NP_001374275.1:n.433-1149_433-1143dup |