Canonical Allele Identifier: CA5538900

Gene: PALD1 PRF1

Linked Data

• ClinVar Variation Id: 971288
• ClinVar RCV Id: RCV001247037 ; RCV001729821 ; RCV003226450 ; RCV003473833 ; RCV004034883
• dbSNP Id: rs745902829
• ExAC: 10:72358621 GCTT / G
• gnomAD v2: 10-72358621-GCTT-G
• gnomAD v3: 10-70598865-GCTT-G
• gnomAD v4: 10-70598865-GCTT-G
• MyVariant Identifiers: chr10:g.72358622_72358624del (hg19) ; chr10:g.70598866_70598868del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70598877_70598879del , CM000672.2:g.70598877_70598879del	GRCh38
NC_000010.10:g.72358633_72358635del , CM000672.1:g.72358633_72358635del	GRCh37
NC_000010.9:g.72028639_72028641del	NCBI36
NG_009615.1:g.8908_8910del , LRG_94:g.8908_8910del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.2419-11_2419-9del (PALD1)	ENSP00000513342.1:n.2419-11_2419-9del
ENST00000697572.1:c.2250+34358_2250+34360del (PALD1)	ENSP00000513343.1:n.2250+34358_2250+34360del
ENST00000697573.1:c.2263-11_2263-9del (PALD1)	ENSP00000513344.1:n.2263-11_2263-9del
ENST00000697577.1:n.2723-11_2723-9del (PALD1)
ENST00000697578.1:n.2567-11_2567-9del (PALD1)
ENST00000441259.2:c.853_855del (PRF1) MANE Select	ENSP00000398568.1:p.Lys285del
ENST00000638674.1:c.540-1027_540-1025del (PRF1)	ENSP00000492048.1:n.540-1027_540-1025del
ENST00000639390.1:n.98-1027_98-1025del (PRF1)
ENST00000373209.2:c.853_855del (PRF1)	ENSP00000362305.1:p.Lys285del
ENST00000441259.1:c.853_855del (PRF1)	ENSP00000398568.1:p.Lys285del
NM_001083116.1:c.853_855del , LRG_94t1:c.853_855del (PRF1)	NP_001076585.1:p.Lys285del
NM_005041.4:c.853_855del (PRF1)	NP_005032.2:p.Lys285del
NM_001083116.2:c.853_855del (PRF1)	NP_001076585.1:p.Lys285del
NM_005041.5:c.853_855del (PRF1)	NP_005032.2:p.Lys285del
NM_001083116.3:c.853_855del (PRF1) MANE Select	NP_001076585.1:p.Lys285del
NM_005041.6:c.853_855del (PRF1)	NP_005032.2:p.Lys285del