Canonical Allele Identifier: CA919375985
Gene: BCL2L2-PABPN1 HGNC NCBI
PABPN1 HGNC NCBI

Linked Data

dbSNP Id: rs398117976
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23320943_23320950dup , CM000676.2:g.23320943_23320950dup GRCh38
NC_000014.8:g.23790152_23790159dup , CM000676.1:g.23790152_23790159dup GRCh37
NC_000014.7:g.22859992_22859999dup NCBI36
NG_008239.1:g.5756_5763dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000678502.1:c.528+1113_528+1120dup (BCL2L2-PABPN1) ENSP00000503309.1:n.528+1113_528+1120dup
ENST00000553781.5:c.433-1238_433-1231dup (BCL2L2-PABPN1) ENSP00000451320.1:n.433-1238_433-1231dup
ENST00000557008.2:c.433-1238_433-1231dup (BCL2L2-PABPN1) ENSP00000452479.1:n.433-1238_433-1231dup
NM_001199864.1:c.433-1238_433-1231dup (BCL2L2-PABPN1) NP_001186793.1:n.433-1238_433-1231dup
NM_004643.3:c.-527_-520dup (PABPN1) NP_004634.1:n.-527_-520dup
NM_001199864.2:c.433-1238_433-1231dup (BCL2L2-PABPN1) NP_001186793.2:n.433-1238_433-1231dup
NM_001199864.3:c.433-1238_433-1231dup (BCL2L2-PABPN1) NP_001186793.2:n.433-1238_433-1231dup
NM_001387340.1:c.550-1238_550-1231dup (BCL2L2-PABPN1) NP_001374269.1:n.550-1238_550-1231dup
NM_001387341.1:c.528+1113_528+1120dup (BCL2L2-PABPN1) NP_001374270.1:n.528+1113_528+1120dup
NM_001387342.1:c.528+1113_528+1120dup (BCL2L2-PABPN1) NP_001374271.1:n.528+1113_528+1120dup
NM_001387343.1:c.528+1113_528+1120dup (BCL2L2-PABPN1) NP_001374272.1:n.528+1113_528+1120dup
NM_001387344.1:c.528+1113_528+1120dup (BCL2L2-PABPN1) NP_001374273.1:n.528+1113_528+1120dup
NM_001387345.1:c.433-1238_433-1231dup (BCL2L2-PABPN1) NP_001374274.1:n.433-1238_433-1231dup
NM_001387346.1:c.433-1238_433-1231dup (BCL2L2-PABPN1) NP_001374275.1:n.433-1238_433-1231dup
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