Canonical Allele Identifier: CA2695199508

Gene: PALD1 PRF1

Linked Data

• ClinVar Variation Id: 2678050
• ClinVar RCV Id: RCV003472527

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70598909_70598915delinsGG , CM000672.2:g.70598909_70598915delinsGG	GRCh38
NC_000010.10:g.72358665_72358671delinsGG , CM000672.1:g.72358665_72358671delinsGG	GRCh37
NC_000010.9:g.72028671_72028677delinsGG	NCBI36
NG_009615.1:g.8861_8867delinsCC , LRG_94:g.8861_8867delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.2440_2446delinsGG (PALD1)	ENSP00000513342.1:p.Leu814GlyfsTer?
ENST00000697572.1:c.2250+34390_2250+34396delinsGG (PALD1)	ENSP00000513343.1:n.2250+34390_2250+34396delinsGG
ENST00000697573.1:c.2284_2290delinsGG (PALD1)	ENSP00000513344.1:p.Leu762GlyfsTer?
ENST00000697577.1:n.2744_2750delinsGG (PALD1)
ENST00000697578.1:n.2588_2594delinsGG (PALD1)
ENST00000441259.2:c.806_812delinsCC (PRF1) MANE Select	ENSP00000398568.1:p.His269ProfsTer10
ENST00000638674.1:c.540-1074_540-1068delinsCC (PRF1)	ENSP00000492048.1:n.540-1074_540-1068delinsCC
ENST00000639390.1:n.98-1074_98-1068delinsCC (PRF1)
ENST00000373209.2:c.806_812delinsCC (PRF1)	ENSP00000362305.1:p.His269ProfsTer10
ENST00000441259.1:c.806_812delinsCC (PRF1)	ENSP00000398568.1:p.His269ProfsTer10
NM_001083116.1:c.806_812delinsCC , LRG_94t1:c.806_812delinsCC (PRF1)	NP_001076585.1:p.His269ProfsTer10
NM_005041.4:c.806_812delinsCC (PRF1)	NP_005032.2:p.His269ProfsTer10
NM_001083116.2:c.806_812delinsCC (PRF1)	NP_001076585.1:p.His269ProfsTer10
NM_005041.5:c.806_812delinsCC (PRF1)	NP_005032.2:p.His269ProfsTer10
NM_001083116.3:c.806_812delinsCC (PRF1) MANE Select	NP_001076585.1:p.His269ProfsTer10
NM_005041.6:c.806_812delinsCC (PRF1)	NP_005032.2:p.His269ProfsTer10