Canonical Allele Identifier: CA257773637
Community Standard Title: NM_004643.4(PABPN1):c.21_23dup (p.Ala11dup)
Gene: PABPN1 HGNC NCBI
BCL2L2-PABPN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23321490_23321492dup , CM000676.2:g.23321490_23321492dup GRCh38
NC_000014.8:g.23790699_23790701dup , CM000676.1:g.23790699_23790701dup GRCh37
NC_000014.7:g.22860539_22860541dup NCBI36
NG_008239.1:g.6303_6305dup

Transcript Alleles

HGVS Amino-acid Change
NM_004643.4:c.21_23dup (PABPN1) MANE Select NP_004634.1:p.Ala8_Ala9insAla
ENST00000216727.9:c.21_23dup (PABPN1) MANE Select ENSP00000216727.4:p.Ala8_Ala9insAla
NM_001199864.1:c.433-691_433-689dup (BCL2L2-PABPN1) NP_001186793.1:n.433-691_433-689dup
NM_001199864.2:c.433-691_433-689dup (BCL2L2-PABPN1) NP_001186793.2:n.433-691_433-689dup
NM_001199864.3:c.433-691_433-689dup (BCL2L2-PABPN1) NP_001186793.2:n.433-691_433-689dup
NM_001360551.1:c.21_23dup (PABPN1) NP_001347480.1:p.Ala8_Ala9insAla
NM_001360551.2:c.21_23dup (PABPN1) NP_001347480.1:p.Ala8_Ala9insAla
NM_001360551.3:c.21_23dup (PABPN1) NP_001347480.1:p.Ala8_Ala9insAla
NM_001387340.1:c.550-691_550-689dup (BCL2L2-PABPN1) NP_001374269.1:n.550-691_550-689dup
NM_001387341.1:c.529-691_529-689dup (BCL2L2-PABPN1) NP_001374270.1:n.529-691_529-689dup
NM_001387342.1:c.529-691_529-689dup (BCL2L2-PABPN1) NP_001374271.1:n.529-691_529-689dup
NM_001387343.1:c.529-691_529-689dup (BCL2L2-PABPN1) NP_001374272.1:n.529-691_529-689dup
NM_001387344.1:c.529-691_529-689dup (BCL2L2-PABPN1) NP_001374273.1:n.529-691_529-689dup
NM_001387345.1:c.433-691_433-689dup (BCL2L2-PABPN1) NP_001374274.1:n.433-691_433-689dup
NM_001387346.1:c.433-691_433-689dup (BCL2L2-PABPN1) NP_001374275.1:n.433-691_433-689dup
NM_004643.3:c.21_23dup (PABPN1) NP_004634.1:p.Ala8_Ala9insAla
ENST00000216727.8:c.21_23dup (PABPN1) ENSP00000216727.4:p.Ala8_Ala9insAla
ENST00000397276.6:c.21_23dup (PABPN1) ENSP00000380446.2:p.Ala8_Ala9insAla
ENST00000553781.5:c.433-691_433-689dup (BCL2L2-PABPN1) ENSP00000451320.1:n.433-691_433-689dup
ENST00000557008.2:c.433-691_433-689dup (BCL2L2-PABPN1) ENSP00000452479.1:n.433-691_433-689dup
ENST00000678502.1:c.529-691_529-689dup (BCL2L2-PABPN1) ENSP00000503309.1:n.529-691_529-689dup
Search 100 bp 5'
Search 100 bp 3'