Canonical Allele Identifier: CA961073803

Gene: BCL2L2-PABPN1 PABPN1

Linked Data

• dbSNP Id: rs1888199698
• gnomAD v3: 14-23321015-T-TCA
• gnomAD v4: 14-23321015-T-TCA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23321016_23321017insAC , CM000676.2:g.23321016_23321017insAC	GRCh38
NC_000014.8:g.23790225_23790226insAC , CM000676.1:g.23790225_23790226insAC	GRCh37
NC_000014.7:g.22860065_22860066insAC	NCBI36
NG_008239.1:g.5829_5830insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000678502.1:c.529-1165_529-1164insAC (BCL2L2-PABPN1)	ENSP00000503309.1:n.529-1165_529-1164insAC
ENST00000553781.5:c.433-1165_433-1164insAC (BCL2L2-PABPN1)	ENSP00000451320.1:n.433-1165_433-1164insAC
ENST00000557008.2:c.433-1165_433-1164insAC (BCL2L2-PABPN1)	ENSP00000452479.1:n.433-1165_433-1164insAC
NM_001199864.1:c.433-1165_433-1164insAC (BCL2L2-PABPN1)	NP_001186793.1:n.433-1165_433-1164insAC
NM_004643.3:c.-454_-453insAC (PABPN1)	NP_004634.1:n.-454_-453insAC
NM_001199864.2:c.433-1165_433-1164insAC (BCL2L2-PABPN1)	NP_001186793.2:n.433-1165_433-1164insAC
NM_001199864.3:c.433-1165_433-1164insAC (BCL2L2-PABPN1)	NP_001186793.2:n.433-1165_433-1164insAC
NM_001387340.1:c.550-1165_550-1164insAC (BCL2L2-PABPN1)	NP_001374269.1:n.550-1165_550-1164insAC
NM_001387341.1:c.529-1165_529-1164insAC (BCL2L2-PABPN1)	NP_001374270.1:n.529-1165_529-1164insAC
NM_001387342.1:c.529-1165_529-1164insAC (BCL2L2-PABPN1)	NP_001374271.1:n.529-1165_529-1164insAC
NM_001387343.1:c.529-1165_529-1164insAC (BCL2L2-PABPN1)	NP_001374272.1:n.529-1165_529-1164insAC
NM_001387344.1:c.529-1165_529-1164insAC (BCL2L2-PABPN1)	NP_001374273.1:n.529-1165_529-1164insAC
NM_001387345.1:c.433-1165_433-1164insAC (BCL2L2-PABPN1)	NP_001374274.1:n.433-1165_433-1164insAC
NM_001387346.1:c.433-1165_433-1164insAC (BCL2L2-PABPN1)	NP_001374275.1:n.433-1165_433-1164insAC