Canonical Allele Identifier: CA1139663411
Gene: PABPN1 HGNC NCBI
BCL2L2-PABPN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 871964
ClinVar RCV Id: RCV001092188
dbSNP Id: rs1888253108
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23321489_23321503dup , CM000676.2:g.23321489_23321503dup GRCh38
NC_000014.8:g.23790698_23790712dup , CM000676.1:g.23790698_23790712dup GRCh37
NC_000014.7:g.22860538_22860552dup NCBI36
NG_008239.1:g.6302_6316dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000216727.9:c.20_34dup (PABPN1) MANE Select ENSP00000216727.4:p.Ala11_Gly12insAlaAlaAlaAlaAla
ENST00000678502.1:c.529-692_529-678dup (BCL2L2-PABPN1) ENSP00000503309.1:n.529-692_529-678dup
ENST00000216727.8:c.20_34dup (PABPN1) ENSP00000216727.4:p.Ala11_Gly12insAlaAlaAlaAlaAla
ENST00000397276.6:c.20_34dup (PABPN1) ENSP00000380446.2:p.Ala11_Gly12insAlaAlaAlaAlaAla
ENST00000553781.5:c.433-692_433-678dup (BCL2L2-PABPN1) ENSP00000451320.1:n.433-692_433-678dup
ENST00000557008.2:c.433-692_433-678dup (BCL2L2-PABPN1) ENSP00000452479.1:n.433-692_433-678dup
NM_001199864.1:c.433-692_433-678dup (BCL2L2-PABPN1) NP_001186793.1:n.433-692_433-678dup
NM_004643.3:c.20_34dup (PABPN1) NP_004634.1:p.Ala11_Gly12insAlaAlaAlaAlaAla
NM_001360551.1:c.20_34dup (PABPN1) NP_001347480.1:p.Ala11_Gly12insAlaAlaAlaAlaAla
NM_001199864.2:c.433-692_433-678dup (BCL2L2-PABPN1) NP_001186793.2:n.433-692_433-678dup
NM_001360551.2:c.20_34dup (PABPN1) NP_001347480.1:p.Ala11_Gly12insAlaAlaAlaAlaAla
NM_001199864.3:c.433-692_433-678dup (BCL2L2-PABPN1) NP_001186793.2:n.433-692_433-678dup
NM_001360551.3:c.20_34dup (PABPN1) NP_001347480.1:p.Ala11_Gly12insAlaAlaAlaAlaAla
NM_001387340.1:c.550-692_550-678dup (BCL2L2-PABPN1) NP_001374269.1:n.550-692_550-678dup
NM_001387341.1:c.529-692_529-678dup (BCL2L2-PABPN1) NP_001374270.1:n.529-692_529-678dup
NM_001387342.1:c.529-692_529-678dup (BCL2L2-PABPN1) NP_001374271.1:n.529-692_529-678dup
NM_001387343.1:c.529-692_529-678dup (BCL2L2-PABPN1) NP_001374272.1:n.529-692_529-678dup
NM_001387344.1:c.529-692_529-678dup (BCL2L2-PABPN1) NP_001374273.1:n.529-692_529-678dup
NM_001387345.1:c.433-692_433-678dup (BCL2L2-PABPN1) NP_001374274.1:n.433-692_433-678dup
NM_001387346.1:c.433-692_433-678dup (BCL2L2-PABPN1) NP_001374275.1:n.433-692_433-678dup
NM_004643.4:c.20_34dup (PABPN1) MANE Select NP_004634.1:p.Ala11_Gly12insAlaAlaAlaAlaAla
Search 100 bp 5'
Search 100 bp 3'