Canonical Allele Identifier: CA2624230952

Gene: BCL2L2-PABPN1 PABPN1

Linked Data

• gnomAD v4: 14-23320988-T-TCAAACTTGGGAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23320989_23320990insAAACTTGGGAAAC , CM000676.2:g.23320989_23320990insAAACTTGGGAAAC	GRCh38
NC_000014.8:g.23790198_23790199insAAACTTGGGAAAC , CM000676.1:g.23790198_23790199insAAACTTGGGAAAC	GRCh37
NC_000014.7:g.22860038_22860039insAAACTTGGGAAAC	NCBI36
NG_008239.1:g.5802_5803insAAACTTGGGAAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000678502.1:c.528+1159_528+1160insAAACTTGGGAAAC (BCL2L2-PABPN1)	ENSP00000503309.1:n.528+1159_528+1160insAAACTTGGGAAAC
ENST00000553781.5:c.433-1192_433-1191insAAACTTGGGAAAC (BCL2L2-PABPN1)	ENSP00000451320.1:n.433-1192_433-1191insAAACTTGGGAAAC
ENST00000557008.2:c.433-1192_433-1191insAAACTTGGGAAAC (BCL2L2-PABPN1)	ENSP00000452479.1:n.433-1192_433-1191insAAACTTGGGAAAC
NM_001199864.1:c.433-1192_433-1191insAAACTTGGGAAAC (BCL2L2-PABPN1)	NP_001186793.1:n.433-1192_433-1191insAAACTTGGGAAAC
NM_004643.3:c.-481_-480insAAACTTGGGAAAC (PABPN1)	NP_004634.1:n.-481_-480insAAACTTGGGAAAC
NM_001199864.2:c.433-1192_433-1191insAAACTTGGGAAAC (BCL2L2-PABPN1)	NP_001186793.2:n.433-1192_433-1191insAAACTTGGGAAAC
NM_001199864.3:c.433-1192_433-1191insAAACTTGGGAAAC (BCL2L2-PABPN1)	NP_001186793.2:n.433-1192_433-1191insAAACTTGGGAAAC
NM_001387340.1:c.550-1192_550-1191insAAACTTGGGAAAC (BCL2L2-PABPN1)	NP_001374269.1:n.550-1192_550-1191insAAACTTGGGAAAC
NM_001387341.1:c.528+1159_528+1160insAAACTTGGGAAAC (BCL2L2-PABPN1)	NP_001374270.1:n.528+1159_528+1160insAAACTTGGGAAAC
NM_001387342.1:c.528+1159_528+1160insAAACTTGGGAAAC (BCL2L2-PABPN1)	NP_001374271.1:n.528+1159_528+1160insAAACTTGGGAAAC
NM_001387343.1:c.528+1159_528+1160insAAACTTGGGAAAC (BCL2L2-PABPN1)	NP_001374272.1:n.528+1159_528+1160insAAACTTGGGAAAC
NM_001387344.1:c.528+1159_528+1160insAAACTTGGGAAAC (BCL2L2-PABPN1)	NP_001374273.1:n.528+1159_528+1160insAAACTTGGGAAAC
NM_001387345.1:c.433-1192_433-1191insAAACTTGGGAAAC (BCL2L2-PABPN1)	NP_001374274.1:n.433-1192_433-1191insAAACTTGGGAAAC
NM_001387346.1:c.433-1192_433-1191insAAACTTGGGAAAC (BCL2L2-PABPN1)	NP_001374275.1:n.433-1192_433-1191insAAACTTGGGAAAC