Canonical Allele Identifier: CA613317036

Gene: PABPN1 BCL2L2-PABPN1

Linked Data

• dbSNP Id: rs1177662054
• gnomAD v2: 14-23790878-A-AGCCCGAGCCCGAAGAGGAGCC
• gnomAD v3: 14-23321669-A-AGCCCGAGCCCGAAGAGGAGCC
• gnomAD v4: 14-23321669-A-AGCCCGAGCCCGAAGAGGAGCC
• MyVariant Identifiers: chr14:g.23790878_23790879insGCCCGAGCCCGAAGAGGAGCC (hg19) ; chr14:g.23321669_23321670insGCCCGAGCCCGAAGAGGAGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23321674_23321694dup , CM000676.2:g.23321674_23321694dup	GRCh38
NC_000014.8:g.23790883_23790903dup , CM000676.1:g.23790883_23790903dup	GRCh37
NC_000014.7:g.22860723_22860743dup	NCBI36
NG_008239.1:g.6487_6507dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216727.9:c.205_225dup (PABPN1) MANE Select	ENSP00000216727.4:p.Pro75_Arg76insGluProGluGluGluProPro
ENST00000678502.1:c.529-507_529-487dup (BCL2L2-PABPN1)	ENSP00000503309.1:n.529-507_529-487dup
ENST00000216727.8:c.205_225dup (PABPN1)	ENSP00000216727.4:p.Pro75_Arg76insGluProGluGluGluProPro
ENST00000397276.6:c.205_225dup (PABPN1)	ENSP00000380446.2:p.Pro75_Arg76insGluProGluGluGluProPro
ENST00000553781.5:c.433-507_433-487dup (BCL2L2-PABPN1)	ENSP00000451320.1:n.433-507_433-487dup
ENST00000556821.5:c.-540_-520dup (PABPN1)	ENSP00000451970.1:n.-540_-520dup
ENST00000557008.2:c.433-507_433-487dup (BCL2L2-PABPN1)	ENSP00000452479.1:n.433-507_433-487dup
NM_001199864.1:c.433-507_433-487dup (BCL2L2-PABPN1)	NP_001186793.1:n.433-507_433-487dup
NM_004643.3:c.205_225dup (PABPN1)	NP_004634.1:p.Pro75_Arg76insGluProGluGluGluProPro
NM_001360551.1:c.205_225dup (PABPN1)	NP_001347480.1:p.Pro75_Arg76insGluProGluGluGluProPro
NM_001199864.2:c.433-507_433-487dup (BCL2L2-PABPN1)	NP_001186793.2:n.433-507_433-487dup
NM_001360551.2:c.205_225dup (PABPN1)	NP_001347480.1:p.Pro75_Arg76insGluProGluGluGluProPro
NM_001199864.3:c.433-507_433-487dup (BCL2L2-PABPN1)	NP_001186793.2:n.433-507_433-487dup
NM_001360551.3:c.205_225dup (PABPN1)	NP_001347480.1:p.Pro75_Arg76insGluProGluGluGluProPro
NM_001387340.1:c.550-507_550-487dup (BCL2L2-PABPN1)	NP_001374269.1:n.550-507_550-487dup
NM_001387341.1:c.529-507_529-487dup (BCL2L2-PABPN1)	NP_001374270.1:n.529-507_529-487dup
NM_001387342.1:c.529-507_529-487dup (BCL2L2-PABPN1)	NP_001374271.1:n.529-507_529-487dup
NM_001387343.1:c.529-507_529-487dup (BCL2L2-PABPN1)	NP_001374272.1:n.529-507_529-487dup
NM_001387344.1:c.529-507_529-487dup (BCL2L2-PABPN1)	NP_001374273.1:n.529-507_529-487dup
NM_001387345.1:c.433-507_433-487dup (BCL2L2-PABPN1)	NP_001374274.1:n.433-507_433-487dup
NM_001387346.1:c.433-507_433-487dup (BCL2L2-PABPN1)	NP_001374275.1:n.433-507_433-487dup
NM_004643.4:c.205_225dup (PABPN1) MANE Select	NP_004634.1:p.Pro75_Arg76insGluProGluGluGluProPro