Canonical Allele Identifier: CA2574572179

Gene: PALD1 PRF1

Linked Data

• dbSNP Id: rs2132474751

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70598061del , CM000672.2:g.70598061del	GRCh38
NC_000010.10:g.72357817del , CM000672.1:g.72357817del	GRCh37
NC_000010.9:g.72027823del	NCBI36
NG_009615.1:g.9715del , LRG_94:g.9715del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.2419-827del (PALD1)	ENSP00000513342.1:n.2419-827del
ENST00000697572.1:c.2250+33542del (PALD1)	ENSP00000513343.1:n.2250+33542del
ENST00000697573.1:c.2263-827del (PALD1)	ENSP00000513344.1:n.2263-827del
ENST00000697577.1:n.2723-827del (PALD1)
ENST00000697578.1:n.2567-827del (PALD1)
ENST00000441259.2:c.1660del (PRF1) MANE Select	ENSP00000398568.1:p.Val554CysfsTer?
ENST00000638674.1:c.540-220del (PRF1)	ENSP00000492048.1:n.540-220del
ENST00000639390.1:n.98-220del (PRF1)
ENST00000373209.2:c.1660del (PRF1)	ENSP00000362305.1:p.Val554CysfsTer?
ENST00000441259.1:c.1660del (PRF1)	ENSP00000398568.1:p.Val554CysfsTer?
NM_001083116.1:c.1660del , LRG_94t1:c.1660del (PRF1)	NP_001076585.1:p.Val554CysfsTer?
NM_005041.4:c.1660del (PRF1)	NP_005032.2:p.Val554CysfsTer?
NM_001083116.2:c.1660del (PRF1)	NP_001076585.1:p.Val554CysfsTer?
NM_005041.5:c.1660del (PRF1)	NP_005032.2:p.Val554CysfsTer?
NM_001083116.3:c.1660del (PRF1) MANE Select	NP_001076585.1:p.Val554CysfsTer?
NM_005041.6:c.1660del (PRF1)	NP_005032.2:p.Val554CysfsTer?