Canonical Allele Identifier: CA2123399070

Gene: BCL2L2-PABPN1 PABPN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23320957_23320958delinsCT , CM000676.2:g.23320957_23320958delinsCT	GRCh38
NC_000014.8:g.23790166_23790167delinsCT , CM000676.1:g.23790166_23790167delinsCT	GRCh37
NC_000014.7:g.22860006_22860007delinsCT	NCBI36
NG_008239.1:g.5770_5771delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000678502.1:c.528+1127_528+1128delinsCT (BCL2L2-PABPN1)	ENSP00000503309.1:n.528+1127_528+1128delinsCT
ENST00000553781.5:c.433-1224_433-1223delinsCT (BCL2L2-PABPN1)	ENSP00000451320.1:n.433-1224_433-1223delinsCT
ENST00000557008.2:c.433-1224_433-1223delinsCT (BCL2L2-PABPN1)	ENSP00000452479.1:n.433-1224_433-1223delinsCT
NM_001199864.1:c.433-1224_433-1223delinsCT (BCL2L2-PABPN1)	NP_001186793.1:n.433-1224_433-1223delinsCT
NM_004643.3:c.-513_-512delinsCT (PABPN1)	NP_004634.1:n.-513_-512delinsCT
NM_001199864.2:c.433-1224_433-1223delinsCT (BCL2L2-PABPN1)	NP_001186793.2:n.433-1224_433-1223delinsCT
NM_001199864.3:c.433-1224_433-1223delinsCT (BCL2L2-PABPN1)	NP_001186793.2:n.433-1224_433-1223delinsCT
NM_001387340.1:c.550-1224_550-1223delinsCT (BCL2L2-PABPN1)	NP_001374269.1:n.550-1224_550-1223delinsCT
NM_001387341.1:c.528+1127_528+1128delinsCT (BCL2L2-PABPN1)	NP_001374270.1:n.528+1127_528+1128delinsCT
NM_001387342.1:c.528+1127_528+1128delinsCT (BCL2L2-PABPN1)	NP_001374271.1:n.528+1127_528+1128delinsCT
NM_001387343.1:c.528+1127_528+1128delinsCT (BCL2L2-PABPN1)	NP_001374272.1:n.528+1127_528+1128delinsCT
NM_001387344.1:c.528+1127_528+1128delinsCT (BCL2L2-PABPN1)	NP_001374273.1:n.528+1127_528+1128delinsCT
NM_001387345.1:c.433-1224_433-1223delinsCT (BCL2L2-PABPN1)	NP_001374274.1:n.433-1224_433-1223delinsCT
NM_001387346.1:c.433-1224_433-1223delinsCT (BCL2L2-PABPN1)	NP_001374275.1:n.433-1224_433-1223delinsCT