Canonical Allele Identifier: CA704293598

Gene: PABPN1 BCL2L2-PABPN1

Linked Data

• dbSNP Id: rs1183452045
• gnomAD v3: 14-23321459-TC-T
• gnomAD v4: 14-23321459-TC-T
• MyVariant Identifiers: chr14:g.23790669del (hg19) ; chr14:g.23321460del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23321460del , CM000676.2:g.23321460del	GRCh38
NC_000014.8:g.23790669del , CM000676.1:g.23790669del	GRCh37
NC_000014.7:g.22860509del	NCBI36
NG_008239.1:g.6273del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216727.9:c.-10del (PABPN1) MANE Select	ENSP00000216727.4:n.-10del
ENST00000678502.1:c.529-721del (BCL2L2-PABPN1)	ENSP00000503309.1:n.529-721del
ENST00000216727.8:c.-10del (PABPN1)	ENSP00000216727.4:n.-10del
ENST00000397276.6:c.-10del (PABPN1)	ENSP00000380446.2:n.-10del
ENST00000553781.5:c.433-721del (BCL2L2-PABPN1)	ENSP00000451320.1:n.433-721del
ENST00000557008.2:c.433-721del (BCL2L2-PABPN1)	ENSP00000452479.1:n.433-721del
NM_001199864.1:c.433-721del (BCL2L2-PABPN1)	NP_001186793.1:n.433-721del
NM_004643.3:c.-10del (PABPN1)	NP_004634.1:n.-10del
NM_001360551.1:c.-10del (PABPN1)	NP_001347480.1:n.-10del
NM_001199864.2:c.433-721del (BCL2L2-PABPN1)	NP_001186793.2:n.433-721del
NM_001360551.2:c.-10del (PABPN1)	NP_001347480.1:n.-10del
NM_001199864.3:c.433-721del (BCL2L2-PABPN1)	NP_001186793.2:n.433-721del
NM_001360551.3:c.-10del (PABPN1)	NP_001347480.1:n.-10del
NM_001387340.1:c.550-721del (BCL2L2-PABPN1)	NP_001374269.1:n.550-721del
NM_001387341.1:c.529-721del (BCL2L2-PABPN1)	NP_001374270.1:n.529-721del
NM_001387342.1:c.529-721del (BCL2L2-PABPN1)	NP_001374271.1:n.529-721del
NM_001387343.1:c.529-721del (BCL2L2-PABPN1)	NP_001374272.1:n.529-721del
NM_001387344.1:c.529-721del (BCL2L2-PABPN1)	NP_001374273.1:n.529-721del
NM_001387345.1:c.433-721del (BCL2L2-PABPN1)	NP_001374274.1:n.433-721del
NM_001387346.1:c.433-721del (BCL2L2-PABPN1)	NP_001374275.1:n.433-721del
NM_004643.4:c.-10del (PABPN1) MANE Select	NP_004634.1:n.-10del