Canonical Allele Identifier: CA2575484535

Gene: PABPN1 BCL2L2-PABPN1

Linked Data

• gnomAD v4: 14-23321651-TGCTGGAGCCCGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23321654_23321665del , CM000676.2:g.23321654_23321665del	GRCh38
NC_000014.8:g.23790863_23790874del , CM000676.1:g.23790863_23790874del	GRCh37
NC_000014.7:g.22860703_22860714del	NCBI36
NG_008239.1:g.6467_6478del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216727.9:c.185_196del (PABPN1) MANE Select	ENSP00000216727.4:p.Leu62_Glu65del
ENST00000678502.1:c.529-527_529-516del (BCL2L2-PABPN1)	ENSP00000503309.1:n.529-527_529-516del
ENST00000216727.8:c.185_196del (PABPN1)	ENSP00000216727.4:p.Leu62_Glu65del
ENST00000397276.6:c.185_196del (PABPN1)	ENSP00000380446.2:p.Leu62_Glu65del
ENST00000553781.5:c.433-527_433-516del (BCL2L2-PABPN1)	ENSP00000451320.1:n.433-527_433-516del
ENST00000556821.5:c.-560_-549del (PABPN1)	ENSP00000451970.1:n.-560_-549del
ENST00000557008.2:c.433-527_433-516del (BCL2L2-PABPN1)	ENSP00000452479.1:n.433-527_433-516del
NM_001199864.1:c.433-527_433-516del (BCL2L2-PABPN1)	NP_001186793.1:n.433-527_433-516del
NM_004643.3:c.185_196del (PABPN1)	NP_004634.1:p.Leu62_Glu65del
NM_001360551.1:c.185_196del (PABPN1)	NP_001347480.1:p.Leu62_Glu65del
NM_001199864.2:c.433-527_433-516del (BCL2L2-PABPN1)	NP_001186793.2:n.433-527_433-516del
NM_001360551.2:c.185_196del (PABPN1)	NP_001347480.1:p.Leu62_Glu65del
NM_001199864.3:c.433-527_433-516del (BCL2L2-PABPN1)	NP_001186793.2:n.433-527_433-516del
NM_001360551.3:c.185_196del (PABPN1)	NP_001347480.1:p.Leu62_Glu65del
NM_001387340.1:c.550-527_550-516del (BCL2L2-PABPN1)	NP_001374269.1:n.550-527_550-516del
NM_001387341.1:c.529-527_529-516del (BCL2L2-PABPN1)	NP_001374270.1:n.529-527_529-516del
NM_001387342.1:c.529-527_529-516del (BCL2L2-PABPN1)	NP_001374271.1:n.529-527_529-516del
NM_001387343.1:c.529-527_529-516del (BCL2L2-PABPN1)	NP_001374272.1:n.529-527_529-516del
NM_001387344.1:c.529-527_529-516del (BCL2L2-PABPN1)	NP_001374273.1:n.529-527_529-516del
NM_001387345.1:c.433-527_433-516del (BCL2L2-PABPN1)	NP_001374274.1:n.433-527_433-516del
NM_001387346.1:c.433-527_433-516del (BCL2L2-PABPN1)	NP_001374275.1:n.433-527_433-516del
NM_004643.4:c.185_196del (PABPN1) MANE Select	NP_004634.1:p.Leu62_Glu65del