Canonical Allele Identifier: CA10631964

Gene: PALD1 PRF1

Linked Data

• ClinVar Variation Id: 300321
• ClinVar RCV Id: RCV000388575 ; RCV001689993 ; RCV003488510
• dbSNP Id: rs34914326
• gnomAD v2: 10-72357599-TA-T
• gnomAD v3: 10-70597843-TA-T
• gnomAD v4: 10-70597843-TA-T
• COSMIC: COSN20107233
• MyVariant Identifiers: chr10:g.72357602del (hg19) ; chr10:g.72357600del (hg19) ; chr10:g.70597846del (hg38) ; chr10:g.70597844del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70597859del , CM000672.2:g.70597859del	GRCh38
NC_000010.10:g.72357615del , CM000672.1:g.72357615del	GRCh37
NC_000010.9:g.72027621del	NCBI36
NG_009615.1:g.9932del , LRG_94:g.9932del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.2419-1029del (PALD1)	ENSP00000513342.1:n.2419-1029del
ENST00000697572.1:c.2250+33340del (PALD1)	ENSP00000513343.1:n.2250+33340del
ENST00000697573.1:c.2263-1029del (PALD1)	ENSP00000513344.1:n.2263-1029del
ENST00000697577.1:n.2723-1029del (PALD1)
ENST00000697578.1:n.2567-1029del (PALD1)
ENST00000441259.2:c.*209del (PRF1) MANE Select	ENSP00000398568.1:n.*209del
ENST00000638674.1:c.540-3del (PRF1)	ENSP00000492048.1:n.540-3del
ENST00000639390.1:n.98-3del (PRF1)
ENST00000373209.2:c.*209del (PRF1)	ENSP00000362305.1:n.*209del
ENST00000441259.1:c.*209del (PRF1)	ENSP00000398568.1:n.*209del
NM_001083116.1:c.*209del , LRG_94t1:c.*209del (PRF1)	NP_001076585.1:n.*209del
NM_005041.4:c.*209del (PRF1)	NP_005032.2:n.*209del
NM_001083116.2:c.*209del (PRF1)	NP_001076585.1:n.*209del
NM_005041.5:c.*209del (PRF1)	NP_005032.2:n.*209del
NM_001083116.3:c.*209del (PRF1) MANE Select	NP_001076585.1:n.*209del
NM_005041.6:c.*209del (PRF1)	NP_005032.2:n.*209del