Canonical Allele Identifier: CA2624233287

Gene: PABPN1 BCL2L2-PABPN1

Linked Data

• gnomAD v4: 14-23321623-TCTGAGGAACTGGAGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23321631_23321645del , CM000676.2:g.23321631_23321645del	GRCh38
NC_000014.8:g.23790840_23790854del , CM000676.1:g.23790840_23790854del	GRCh37
NC_000014.7:g.22860680_22860694del	NCBI36
NG_008239.1:g.6444_6458del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216727.9:c.162_176del (PABPN1) MANE Select	ENSP00000216727.4:p.Leu55_Glu59del
ENST00000678502.1:c.529-550_529-536del (BCL2L2-PABPN1)	ENSP00000503309.1:n.529-550_529-536del
ENST00000216727.8:c.162_176del (PABPN1)	ENSP00000216727.4:p.Leu55_Glu59del
ENST00000397276.6:c.162_176del (PABPN1)	ENSP00000380446.2:p.Leu55_Glu59del
ENST00000553781.5:c.433-550_433-536del (BCL2L2-PABPN1)	ENSP00000451320.1:n.433-550_433-536del
ENST00000556821.5:c.-583_-569del (PABPN1)	ENSP00000451970.1:n.-583_-569del
ENST00000557008.2:c.433-550_433-536del (BCL2L2-PABPN1)	ENSP00000452479.1:n.433-550_433-536del
NM_001199864.1:c.433-550_433-536del (BCL2L2-PABPN1)	NP_001186793.1:n.433-550_433-536del
NM_004643.3:c.162_176del (PABPN1)	NP_004634.1:p.Leu55_Glu59del
NM_001360551.1:c.162_176del (PABPN1)	NP_001347480.1:p.Leu55_Glu59del
NM_001199864.2:c.433-550_433-536del (BCL2L2-PABPN1)	NP_001186793.2:n.433-550_433-536del
NM_001360551.2:c.162_176del (PABPN1)	NP_001347480.1:p.Leu55_Glu59del
NM_001199864.3:c.433-550_433-536del (BCL2L2-PABPN1)	NP_001186793.2:n.433-550_433-536del
NM_001360551.3:c.162_176del (PABPN1)	NP_001347480.1:p.Leu55_Glu59del
NM_001387340.1:c.550-550_550-536del (BCL2L2-PABPN1)	NP_001374269.1:n.550-550_550-536del
NM_001387341.1:c.529-550_529-536del (BCL2L2-PABPN1)	NP_001374270.1:n.529-550_529-536del
NM_001387342.1:c.529-550_529-536del (BCL2L2-PABPN1)	NP_001374271.1:n.529-550_529-536del
NM_001387343.1:c.529-550_529-536del (BCL2L2-PABPN1)	NP_001374272.1:n.529-550_529-536del
NM_001387344.1:c.529-550_529-536del (BCL2L2-PABPN1)	NP_001374273.1:n.529-550_529-536del
NM_001387345.1:c.433-550_433-536del (BCL2L2-PABPN1)	NP_001374274.1:n.433-550_433-536del
NM_001387346.1:c.433-550_433-536del (BCL2L2-PABPN1)	NP_001374275.1:n.433-550_433-536del
NM_004643.4:c.162_176del (PABPN1) MANE Select	NP_004634.1:p.Leu55_Glu59del