Canonical Allele Identifier: CA2575484493
Gene: BCL2L2-PABPN1 HGNC NCBI
PABPN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23321403_23321405del , CM000676.2:g.23321403_23321405del GRCh38
NC_000014.8:g.23790612_23790614del , CM000676.1:g.23790612_23790614del GRCh37
NC_000014.7:g.22860452_22860454del NCBI36
NG_008239.1:g.6216_6218del

Transcript Alleles

HGVS Amino-acid change
ENST00000678502.1:c.529-778_529-776del (BCL2L2-PABPN1) ENSP00000503309.1:n.529-778_529-776del
ENST00000216727.8:c.-67_-65del (PABPN1) ENSP00000216727.4:n.-67_-65del
ENST00000553781.5:c.433-778_433-776del (BCL2L2-PABPN1) ENSP00000451320.1:n.433-778_433-776del
ENST00000557008.2:c.433-778_433-776del (BCL2L2-PABPN1) ENSP00000452479.1:n.433-778_433-776del
NM_001199864.1:c.433-778_433-776del (BCL2L2-PABPN1) NP_001186793.1:n.433-778_433-776del
NM_004643.3:c.-67_-65del (PABPN1) NP_004634.1:n.-67_-65del
NM_001199864.2:c.433-778_433-776del (BCL2L2-PABPN1) NP_001186793.2:n.433-778_433-776del
NM_001199864.3:c.433-778_433-776del (BCL2L2-PABPN1) NP_001186793.2:n.433-778_433-776del
NM_001387340.1:c.550-778_550-776del (BCL2L2-PABPN1) NP_001374269.1:n.550-778_550-776del
NM_001387341.1:c.529-778_529-776del (BCL2L2-PABPN1) NP_001374270.1:n.529-778_529-776del
NM_001387342.1:c.529-778_529-776del (BCL2L2-PABPN1) NP_001374271.1:n.529-778_529-776del
NM_001387343.1:c.529-778_529-776del (BCL2L2-PABPN1) NP_001374272.1:n.529-778_529-776del
NM_001387344.1:c.529-778_529-776del (BCL2L2-PABPN1) NP_001374273.1:n.529-778_529-776del
NM_001387345.1:c.433-778_433-776del (BCL2L2-PABPN1) NP_001374274.1:n.433-778_433-776del
NM_001387346.1:c.433-778_433-776del (BCL2L2-PABPN1) NP_001374275.1:n.433-778_433-776del
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