Canonical Allele Identifier: CA2123399127

Gene: BCL2L2-PABPN1 PABPN1

Linked Data

• dbSNP Id: rs1888197390
• gnomAD v4: 14-23321001-GCCCGGCAGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23321004_23321012del , CM000676.2:g.23321004_23321012del	GRCh38
NC_000014.8:g.23790213_23790221del , CM000676.1:g.23790213_23790221del	GRCh37
NC_000014.7:g.22860053_22860061del	NCBI36
NG_008239.1:g.5817_5825del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000678502.1:c.528+1174_529-1169del (BCL2L2-PABPN1)	ENSP00000503309.1:n.528+1174_529-1169del
ENST00000553781.5:c.433-1177_433-1169del (BCL2L2-PABPN1)	ENSP00000451320.1:n.433-1177_433-1169del
ENST00000557008.2:c.433-1177_433-1169del (BCL2L2-PABPN1)	ENSP00000452479.1:n.433-1177_433-1169del
NM_001199864.1:c.433-1177_433-1169del (BCL2L2-PABPN1)	NP_001186793.1:n.433-1177_433-1169del
NM_004643.3:c.-466_-458del (PABPN1)	NP_004634.1:n.-466_-458del
NM_001199864.2:c.433-1177_433-1169del (BCL2L2-PABPN1)	NP_001186793.2:n.433-1177_433-1169del
NM_001199864.3:c.433-1177_433-1169del (BCL2L2-PABPN1)	NP_001186793.2:n.433-1177_433-1169del
NM_001387340.1:c.550-1177_550-1169del (BCL2L2-PABPN1)	NP_001374269.1:n.550-1177_550-1169del
NM_001387341.1:c.528+1174_529-1169del (BCL2L2-PABPN1)	NP_001374270.1:n.528+1174_529-1169del
NM_001387342.1:c.528+1174_529-1169del (BCL2L2-PABPN1)	NP_001374271.1:n.528+1174_529-1169del
NM_001387343.1:c.528+1174_529-1169del (BCL2L2-PABPN1)	NP_001374272.1:n.528+1174_529-1169del
NM_001387344.1:c.528+1174_529-1169del (BCL2L2-PABPN1)	NP_001374273.1:n.528+1174_529-1169del
NM_001387345.1:c.433-1177_433-1169del (BCL2L2-PABPN1)	NP_001374274.1:n.433-1177_433-1169del
NM_001387346.1:c.433-1177_433-1169del (BCL2L2-PABPN1)	NP_001374275.1:n.433-1177_433-1169del