Canonical Allele Identifier: CA2624234777

Gene: PABPN1 BCL2L2-PABPN1

Linked Data

• gnomAD v4: 14-23321860-CGGCCGGGTCACTGGAGGCCCAGAGCTCGGGCGAGCGGGTGGCAGGCGGGGGGTGGGGTTGGGCGGGGAATAACGTGGCTGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23321870_23321950del , CM000676.2:g.23321870_23321950del	GRCh38
NC_000014.8:g.23791079_23791159del , CM000676.1:g.23791079_23791159del	GRCh37
NC_000014.7:g.22860919_22860999del	NCBI36
NG_008239.1:g.6683_6763del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216727.9:c.351+50_351+130del (PABPN1) MANE Select	ENSP00000216727.4:n.351+50_351+130del
ENST00000678502.1:c.529-311_529-231del (BCL2L2-PABPN1)	ENSP00000503309.1:n.529-311_529-231del
ENST00000216727.8:c.351+50_351+130del (PABPN1)	ENSP00000216727.4:n.351+50_351+130del
ENST00000397276.6:c.351+50_351+130del (PABPN1)	ENSP00000380446.2:n.351+50_351+130del
ENST00000553781.5:c.433-311_433-231del (BCL2L2-PABPN1)	ENSP00000451320.1:n.433-311_433-231del
ENST00000556809.1:n.57_137del (PABPN1)
ENST00000556821.5:c.-344_-264del (PABPN1)	ENSP00000451970.1:n.-344_-264del
ENST00000557008.2:c.433-311_433-231del (BCL2L2-PABPN1)	ENSP00000452479.1:n.433-311_433-231del
NM_001199864.1:c.433-311_433-231del (BCL2L2-PABPN1)	NP_001186793.1:n.433-311_433-231del
NM_004643.3:c.351+50_351+130del (PABPN1)	NP_004634.1:n.351+50_351+130del
NM_001360551.1:c.351+50_351+130del (PABPN1)	NP_001347480.1:n.351+50_351+130del
NM_001199864.2:c.433-311_433-231del (BCL2L2-PABPN1)	NP_001186793.2:n.433-311_433-231del
NM_001360551.2:c.351+50_351+130del (PABPN1)	NP_001347480.1:n.351+50_351+130del
NM_001199864.3:c.433-311_433-231del (BCL2L2-PABPN1)	NP_001186793.2:n.433-311_433-231del
NM_001360551.3:c.351+50_351+130del (PABPN1)	NP_001347480.1:n.351+50_351+130del
NM_001387340.1:c.550-311_550-231del (BCL2L2-PABPN1)	NP_001374269.1:n.550-311_550-231del
NM_001387341.1:c.529-311_529-231del (BCL2L2-PABPN1)	NP_001374270.1:n.529-311_529-231del
NM_001387342.1:c.529-311_529-231del (BCL2L2-PABPN1)	NP_001374271.1:n.529-311_529-231del
NM_001387343.1:c.529-311_529-231del (BCL2L2-PABPN1)	NP_001374272.1:n.529-311_529-231del
NM_001387344.1:c.529-311_529-231del (BCL2L2-PABPN1)	NP_001374273.1:n.529-311_529-231del
NM_001387345.1:c.433-311_433-231del (BCL2L2-PABPN1)	NP_001374274.1:n.433-311_433-231del
NM_001387346.1:c.433-311_433-231del (BCL2L2-PABPN1)	NP_001374275.1:n.433-311_433-231del
NM_004643.4:c.351+50_351+130del (PABPN1) MANE Select	NP_004634.1:n.351+50_351+130del