Canonical Allele Identifier: CA2624232249
Gene: BCL2L2-PABPN1 HGNC NCBI
PABPN1 HGNC NCBI

Linked Data

gnomAD v4: 14-23321454-CCCAG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23321455_23321458del , CM000676.2:g.23321455_23321458del GRCh38
NC_000014.8:g.23790664_23790667del , CM000676.1:g.23790664_23790667del GRCh37
NC_000014.7:g.22860504_22860507del NCBI36
NG_008239.1:g.6268_6271del

Transcript Alleles

HGVS Amino-acid Change
ENST00000678502.1:c.529-726_529-723del (BCL2L2-PABPN1) ENSP00000503309.1:n.529-726_529-723del
ENST00000216727.8:c.-15_-12del (PABPN1) ENSP00000216727.4:n.-15_-12del
ENST00000553781.5:c.433-726_433-723del (BCL2L2-PABPN1) ENSP00000451320.1:n.433-726_433-723del
ENST00000557008.2:c.433-726_433-723del (BCL2L2-PABPN1) ENSP00000452479.1:n.433-726_433-723del
NM_001199864.1:c.433-726_433-723del (BCL2L2-PABPN1) NP_001186793.1:n.433-726_433-723del
NM_004643.3:c.-15_-12del (PABPN1) NP_004634.1:n.-15_-12del
NM_001199864.2:c.433-726_433-723del (BCL2L2-PABPN1) NP_001186793.2:n.433-726_433-723del
NM_001199864.3:c.433-726_433-723del (BCL2L2-PABPN1) NP_001186793.2:n.433-726_433-723del
NM_001387340.1:c.550-726_550-723del (BCL2L2-PABPN1) NP_001374269.1:n.550-726_550-723del
NM_001387341.1:c.529-726_529-723del (BCL2L2-PABPN1) NP_001374270.1:n.529-726_529-723del
NM_001387342.1:c.529-726_529-723del (BCL2L2-PABPN1) NP_001374271.1:n.529-726_529-723del
NM_001387343.1:c.529-726_529-723del (BCL2L2-PABPN1) NP_001374272.1:n.529-726_529-723del
NM_001387344.1:c.529-726_529-723del (BCL2L2-PABPN1) NP_001374273.1:n.529-726_529-723del
NM_001387345.1:c.433-726_433-723del (BCL2L2-PABPN1) NP_001374274.1:n.433-726_433-723del
NM_001387346.1:c.433-726_433-723del (BCL2L2-PABPN1) NP_001374275.1:n.433-726_433-723del
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