Canonical Allele Identifier: CA2580081801

Gene: PALD1 PRF1

Linked Data

• ClinVar Variation Id: 2176312
• ClinVar RCV Id: RCV002582322

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70598899_70598900delinsAA , CM000672.2:g.70598899_70598900delinsAA	GRCh38
NC_000010.10:g.72358655_72358656delinsAA , CM000672.1:g.72358655_72358656delinsAA	GRCh37
NC_000010.9:g.72028661_72028662delinsAA	NCBI36
NG_009615.1:g.8876_8877delinsTT , LRG_94:g.8876_8877delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.2430_2431delinsAA (PALD1)	ENSP00000513342.1:p.Ala811Thr
ENST00000697572.1:c.2250+34380_2250+34381delinsAA (PALD1)	ENSP00000513343.1:n.2250+34380_2250+34381delinsAA
ENST00000697573.1:c.2274_2275delinsAA (PALD1)	ENSP00000513344.1:p.Ala759Thr
ENST00000697577.1:n.2734_2735delinsAA (PALD1)
ENST00000697578.1:n.2578_2579delinsAA (PALD1)
ENST00000441259.2:c.821_822delinsTT (PRF1) MANE Select	ENSP00000398568.1:p.Ala274Val
ENST00000638674.1:c.540-1059_540-1058delinsTT (PRF1)	ENSP00000492048.1:n.540-1059_540-1058delinsTT
ENST00000639390.1:n.98-1059_98-1058delinsTT (PRF1)
ENST00000373209.2:c.821_822delinsTT (PRF1)	ENSP00000362305.1:p.Ala274Val
ENST00000441259.1:c.821_822delinsTT (PRF1)	ENSP00000398568.1:p.Ala274Val
NM_001083116.1:c.821_822delinsTT , LRG_94t1:c.821_822delinsTT (PRF1)	NP_001076585.1:p.Ala274Val
NM_005041.4:c.821_822delinsTT (PRF1)	NP_005032.2:p.Ala274Val
NM_001083116.2:c.821_822delinsTT (PRF1)	NP_001076585.1:p.Ala274Val
NM_005041.5:c.821_822delinsTT (PRF1)	NP_005032.2:p.Ala274Val
NM_001083116.3:c.821_822delinsTT (PRF1) MANE Select	NP_001076585.1:p.Ala274Val
NM_005041.6:c.821_822delinsTT (PRF1)	NP_005032.2:p.Ala274Val