Canonical Allele Identifier: CA2624233653

Gene: PABPN1 BCL2L2-PABPN1

Linked Data

• gnomAD v4: 14-23321695-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23321695_23321696insT , CM000676.2:g.23321695_23321696insT	GRCh38
NC_000014.8:g.23790904_23790905insT , CM000676.1:g.23790904_23790905insT	GRCh37
NC_000014.7:g.22860744_22860745insT	NCBI36
NG_008239.1:g.6508_6509insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216727.9:c.226_227insT (PABPN1) MANE Select	ENSP00000216727.4:p.Arg76LeufsTer?
ENST00000678502.1:c.529-486_529-485insT (BCL2L2-PABPN1)	ENSP00000503309.1:n.529-486_529-485insT
ENST00000216727.8:c.226_227insT (PABPN1)	ENSP00000216727.4:p.Arg76LeufsTer?
ENST00000397276.6:c.226_227insT (PABPN1)	ENSP00000380446.2:p.Arg76LeufsTer?
ENST00000553781.5:c.433-486_433-485insT (BCL2L2-PABPN1)	ENSP00000451320.1:n.433-486_433-485insT
ENST00000556821.5:c.-519_-518insT (PABPN1)	ENSP00000451970.1:n.-519_-518insT
ENST00000557008.2:c.433-486_433-485insT (BCL2L2-PABPN1)	ENSP00000452479.1:n.433-486_433-485insT
NM_001199864.1:c.433-486_433-485insT (BCL2L2-PABPN1)	NP_001186793.1:n.433-486_433-485insT
NM_004643.3:c.226_227insT (PABPN1)	NP_004634.1:p.Arg76LeufsTer?
NM_001360551.1:c.226_227insT (PABPN1)	NP_001347480.1:p.Arg76LeufsTer?
NM_001199864.2:c.433-486_433-485insT (BCL2L2-PABPN1)	NP_001186793.2:n.433-486_433-485insT
NM_001360551.2:c.226_227insT (PABPN1)	NP_001347480.1:p.Arg76LeufsTer?
NM_001199864.3:c.433-486_433-485insT (BCL2L2-PABPN1)	NP_001186793.2:n.433-486_433-485insT
NM_001360551.3:c.226_227insT (PABPN1)	NP_001347480.1:p.Arg76LeufsTer?
NM_001387340.1:c.550-486_550-485insT (BCL2L2-PABPN1)	NP_001374269.1:n.550-486_550-485insT
NM_001387341.1:c.529-486_529-485insT (BCL2L2-PABPN1)	NP_001374270.1:n.529-486_529-485insT
NM_001387342.1:c.529-486_529-485insT (BCL2L2-PABPN1)	NP_001374271.1:n.529-486_529-485insT
NM_001387343.1:c.529-486_529-485insT (BCL2L2-PABPN1)	NP_001374272.1:n.529-486_529-485insT
NM_001387344.1:c.529-486_529-485insT (BCL2L2-PABPN1)	NP_001374273.1:n.529-486_529-485insT
NM_001387345.1:c.433-486_433-485insT (BCL2L2-PABPN1)	NP_001374274.1:n.433-486_433-485insT
NM_001387346.1:c.433-486_433-485insT (BCL2L2-PABPN1)	NP_001374275.1:n.433-486_433-485insT
NM_004643.4:c.226_227insT (PABPN1) MANE Select	NP_004634.1:p.Arg76LeufsTer?