Canonical Allele Identifier: CA2624234501

Gene: PABPN1 BCL2L2-PABPN1

Linked Data

• gnomAD v4: 14-23321825-G-GCT

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23321825_23321826insCT , CM000676.2:g.23321825_23321826insCT	GRCh38
NC_000014.8:g.23791034_23791035insCT , CM000676.1:g.23791034_23791035insCT	GRCh37
NC_000014.7:g.22860874_22860875insCT	NCBI36
NG_008239.1:g.6638_6639insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216727.9:c.351+5_351+6insCT (PABPN1) MANE Select	ENSP00000216727.4:n.351+5_351+6insCT
ENST00000678502.1:c.529-356_529-355insCT (BCL2L2-PABPN1)	ENSP00000503309.1:n.529-356_529-355insCT
ENST00000216727.8:c.351+5_351+6insCT (PABPN1)	ENSP00000216727.4:n.351+5_351+6insCT
ENST00000397276.6:c.351+5_351+6insCT (PABPN1)	ENSP00000380446.2:n.351+5_351+6insCT
ENST00000553781.5:c.433-356_433-355insCT (BCL2L2-PABPN1)	ENSP00000451320.1:n.433-356_433-355insCT
ENST00000556809.1:n.12_13insCT (PABPN1)
ENST00000556821.5:c.-389_-388insCT (PABPN1)	ENSP00000451970.1:n.-389_-388insCT
ENST00000557008.2:c.433-356_433-355insCT (BCL2L2-PABPN1)	ENSP00000452479.1:n.433-356_433-355insCT
NM_001199864.1:c.433-356_433-355insCT (BCL2L2-PABPN1)	NP_001186793.1:n.433-356_433-355insCT
NM_004643.3:c.351+5_351+6insCT (PABPN1)	NP_004634.1:n.351+5_351+6insCT
NM_001360551.1:c.351+5_351+6insCT (PABPN1)	NP_001347480.1:n.351+5_351+6insCT
NM_001199864.2:c.433-356_433-355insCT (BCL2L2-PABPN1)	NP_001186793.2:n.433-356_433-355insCT
NM_001360551.2:c.351+5_351+6insCT (PABPN1)	NP_001347480.1:n.351+5_351+6insCT
NM_001199864.3:c.433-356_433-355insCT (BCL2L2-PABPN1)	NP_001186793.2:n.433-356_433-355insCT
NM_001360551.3:c.351+5_351+6insCT (PABPN1)	NP_001347480.1:n.351+5_351+6insCT
NM_001387340.1:c.550-356_550-355insCT (BCL2L2-PABPN1)	NP_001374269.1:n.550-356_550-355insCT
NM_001387341.1:c.529-356_529-355insCT (BCL2L2-PABPN1)	NP_001374270.1:n.529-356_529-355insCT
NM_001387342.1:c.529-356_529-355insCT (BCL2L2-PABPN1)	NP_001374271.1:n.529-356_529-355insCT
NM_001387343.1:c.529-356_529-355insCT (BCL2L2-PABPN1)	NP_001374272.1:n.529-356_529-355insCT
NM_001387344.1:c.529-356_529-355insCT (BCL2L2-PABPN1)	NP_001374273.1:n.529-356_529-355insCT
NM_001387345.1:c.433-356_433-355insCT (BCL2L2-PABPN1)	NP_001374274.1:n.433-356_433-355insCT
NM_001387346.1:c.433-356_433-355insCT (BCL2L2-PABPN1)	NP_001374275.1:n.433-356_433-355insCT
NM_004643.4:c.351+5_351+6insCT (PABPN1) MANE Select	NP_004634.1:n.351+5_351+6insCT