Canonical Allele Identifier: CA913189797

Gene: PALD1 PRF1

Linked Data

• ClinVar Variation Id: 623316
• ClinVar RCV Id: RCV000761453 ; RCV003329336
• dbSNP Id: rs1564724291

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70598863_70598874del , CM000672.2:g.70598863_70598874del	GRCh38
NC_000010.10:g.72358619_72358630del , CM000672.1:g.72358619_72358630del	GRCh37
NC_000010.9:g.72028625_72028636del	NCBI36
NG_009615.1:g.8906_8917del , LRG_94:g.8906_8917del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.2419-25_2419-14del (PALD1)	ENSP00000513342.1:n.2419-25_2419-14del
ENST00000697572.1:c.2250+34344_2250+34355del (PALD1)	ENSP00000513343.1:n.2250+34344_2250+34355del
ENST00000697573.1:c.2263-25_2263-14del (PALD1)	ENSP00000513344.1:n.2263-25_2263-14del
ENST00000697577.1:n.2723-25_2723-14del (PALD1)
ENST00000697578.1:n.2567-25_2567-14del (PALD1)
ENST00000441259.2:c.851_862del (PRF1) MANE Select	ENSP00000398568.1:p.Lys284_Lys287del
ENST00000638674.1:c.540-1029_540-1018del (PRF1)	ENSP00000492048.1:n.540-1029_540-1018del
ENST00000639390.1:n.98-1029_98-1018del (PRF1)
ENST00000373209.2:c.851_862del (PRF1)	ENSP00000362305.1:p.Lys284_Lys287del
ENST00000441259.1:c.851_862del (PRF1)	ENSP00000398568.1:p.Lys284_Lys287del
NM_001083116.1:c.851_862del , LRG_94t1:c.851_862del (PRF1)	NP_001076585.1:p.Lys284_Lys287del
NM_005041.4:c.851_862del (PRF1)	NP_005032.2:p.Lys284_Lys287del
NM_001083116.2:c.851_862del (PRF1)	NP_001076585.1:p.Lys284_Lys287del
NM_005041.5:c.851_862del (PRF1)	NP_005032.2:p.Lys284_Lys287del
NM_001083116.3:c.851_862del (PRF1) MANE Select	NP_001076585.1:p.Lys284_Lys287del
NM_005041.6:c.851_862del (PRF1)	NP_005032.2:p.Lys284_Lys287del