Canonical Allele Identifier: CA704293560
Gene: BCL2L2-PABPN1 HGNC NCBI
PABPN1 HGNC NCBI

Linked Data

dbSNP Id: rs1474467544
gnomAD v3: 14-23321363-ATGGAG-A
gnomAD v4: 14-23321363-ATGGAG-A
MyVariant Identifiers: chr14:g.23790573_23790577del (hg19) chr14:g.23321364_23321368del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23321365_23321369del , CM000676.2:g.23321365_23321369del GRCh38
NC_000014.8:g.23790574_23790578del , CM000676.1:g.23790574_23790578del GRCh37
NC_000014.7:g.22860414_22860418del NCBI36
NG_008239.1:g.6178_6182del

Transcript Alleles

HGVS Amino-acid Change
ENST00000678502.1:c.529-816_529-812del (BCL2L2-PABPN1) ENSP00000503309.1:n.529-816_529-812del
ENST00000216727.8:c.-105_-101del (PABPN1) ENSP00000216727.4:n.-105_-101del
ENST00000553781.5:c.433-816_433-812del (BCL2L2-PABPN1) ENSP00000451320.1:n.433-816_433-812del
ENST00000557008.2:c.433-816_433-812del (BCL2L2-PABPN1) ENSP00000452479.1:n.433-816_433-812del
NM_001199864.1:c.433-816_433-812del (BCL2L2-PABPN1) NP_001186793.1:n.433-816_433-812del
NM_004643.3:c.-105_-101del (PABPN1) NP_004634.1:n.-105_-101del
NM_001199864.2:c.433-816_433-812del (BCL2L2-PABPN1) NP_001186793.2:n.433-816_433-812del
NM_001199864.3:c.433-816_433-812del (BCL2L2-PABPN1) NP_001186793.2:n.433-816_433-812del
NM_001387340.1:c.550-816_550-812del (BCL2L2-PABPN1) NP_001374269.1:n.550-816_550-812del
NM_001387341.1:c.529-816_529-812del (BCL2L2-PABPN1) NP_001374270.1:n.529-816_529-812del
NM_001387342.1:c.529-816_529-812del (BCL2L2-PABPN1) NP_001374271.1:n.529-816_529-812del
NM_001387343.1:c.529-816_529-812del (BCL2L2-PABPN1) NP_001374272.1:n.529-816_529-812del
NM_001387344.1:c.529-816_529-812del (BCL2L2-PABPN1) NP_001374273.1:n.529-816_529-812del
NM_001387345.1:c.433-816_433-812del (BCL2L2-PABPN1) NP_001374274.1:n.433-816_433-812del
NM_001387346.1:c.433-816_433-812del (BCL2L2-PABPN1) NP_001374275.1:n.433-816_433-812del
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