Canonical Allele Identifier: CA1918330412

Gene: PALD1 PRF1

Linked Data

• dbSNP Id: rs1848178363

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70598950del , CM000672.2:g.70598950del	GRCh38
NC_000010.10:g.72358706del , CM000672.1:g.72358706del	GRCh37
NC_000010.9:g.72028712del	NCBI36
NG_009615.1:g.8827del , LRG_94:g.8827del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.2481del (PALD1)	ENSP00000513342.1:p.Arg827SerfsTer9
ENST00000697572.1:c.2250+34431del (PALD1)	ENSP00000513343.1:n.2250+34431del
ENST00000697573.1:c.2325del (PALD1)	ENSP00000513344.1:p.Arg775SerfsTer9
ENST00000697577.1:n.2785del (PALD1)
ENST00000697578.1:n.2629del (PALD1)
ENST00000441259.2:c.772del (PRF1) MANE Select	ENSP00000398568.1:p.Leu258Ter
ENST00000638674.1:c.540-1108del (PRF1)	ENSP00000492048.1:n.540-1108del
ENST00000639390.1:n.98-1108del (PRF1)
ENST00000373209.2:c.772del (PRF1)	ENSP00000362305.1:p.Leu258Ter
ENST00000441259.1:c.772del (PRF1)	ENSP00000398568.1:p.Leu258Ter
NM_001083116.1:c.772del , LRG_94t1:c.772del (PRF1)	NP_001076585.1:p.Leu258Ter
NM_005041.4:c.772del (PRF1)	NP_005032.2:p.Leu258Ter
NM_001083116.2:c.772del (PRF1)	NP_001076585.1:p.Leu258Ter
NM_005041.5:c.772del (PRF1)	NP_005032.2:p.Leu258Ter
NM_001083116.3:c.772del (PRF1) MANE Select	NP_001076585.1:p.Leu258Ter
NM_005041.6:c.772del (PRF1)	NP_005032.2:p.Leu258Ter