Canonical Allele Identifier: CA2624232641
Gene: PABPN1 HGNC NCBI
BCL2L2-PABPN1 HGNC NCBI

Linked Data

gnomAD v4: 14-23321518-CGGGGCTCCGGGCCGGGGCGGCGGCGCCATCTTGTGCCCGGGGCCGGTGGGGAGGCCGGGGAG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23321524_23321585del , CM000676.2:g.23321524_23321585del GRCh38
NC_000014.8:g.23790733_23790794del , CM000676.1:g.23790733_23790794del GRCh37
NC_000014.7:g.22860573_22860634del NCBI36
NG_008239.1:g.6337_6398del

Transcript Alleles

HGVS Amino-acid Change
ENST00000216727.9:c.55_116del (PABPN1) MANE Select ENSP00000216727.4:p.Ser19ProfsTer14
ENST00000678502.1:c.529-657_529-596del (BCL2L2-PABPN1) ENSP00000503309.1:n.529-657_529-596del
ENST00000216727.8:c.55_116del (PABPN1) ENSP00000216727.4:p.Ser19ProfsTer14
ENST00000397276.6:c.55_116del (PABPN1) ENSP00000380446.2:p.Ser19ProfsTer14
ENST00000553781.5:c.433-657_433-596del (BCL2L2-PABPN1) ENSP00000451320.1:n.433-657_433-596del
ENST00000557008.2:c.433-657_433-596del (BCL2L2-PABPN1) ENSP00000452479.1:n.433-657_433-596del
NM_001199864.1:c.433-657_433-596del (BCL2L2-PABPN1) NP_001186793.1:n.433-657_433-596del
NM_004643.3:c.55_116del (PABPN1) NP_004634.1:p.Ser19ProfsTer14
NM_001360551.1:c.55_116del (PABPN1) NP_001347480.1:p.Ser19ProfsTer14
NM_001199864.2:c.433-657_433-596del (BCL2L2-PABPN1) NP_001186793.2:n.433-657_433-596del
NM_001360551.2:c.55_116del (PABPN1) NP_001347480.1:p.Ser19ProfsTer14
NM_001199864.3:c.433-657_433-596del (BCL2L2-PABPN1) NP_001186793.2:n.433-657_433-596del
NM_001360551.3:c.55_116del (PABPN1) NP_001347480.1:p.Ser19ProfsTer14
NM_001387340.1:c.550-657_550-596del (BCL2L2-PABPN1) NP_001374269.1:n.550-657_550-596del
NM_001387341.1:c.529-657_529-596del (BCL2L2-PABPN1) NP_001374270.1:n.529-657_529-596del
NM_001387342.1:c.529-657_529-596del (BCL2L2-PABPN1) NP_001374271.1:n.529-657_529-596del
NM_001387343.1:c.529-657_529-596del (BCL2L2-PABPN1) NP_001374272.1:n.529-657_529-596del
NM_001387344.1:c.529-657_529-596del (BCL2L2-PABPN1) NP_001374273.1:n.529-657_529-596del
NM_001387345.1:c.433-657_433-596del (BCL2L2-PABPN1) NP_001374274.1:n.433-657_433-596del
NM_001387346.1:c.433-657_433-596del (BCL2L2-PABPN1) NP_001374275.1:n.433-657_433-596del
NM_004643.4:c.55_116del (PABPN1) MANE Select NP_004634.1:p.Ser19ProfsTer14
Search 100 bp 5'
Search 100 bp 3'