Canonical Allele Identifier: CA2499220308

Gene: PALD1 PRF1

Linked Data

• ClinVar Variation Id: 1072304
• ClinVar RCV Id: RCV001384989
• dbSNP Id: rs2132475735

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70598612_70598619dup , CM000672.2:g.70598612_70598619dup	GRCh38
NC_000010.10:g.72358368_72358375dup , CM000672.1:g.72358368_72358375dup	GRCh37
NC_000010.9:g.72028374_72028381dup	NCBI36
NG_009615.1:g.9158_9165dup , LRG_94:g.9158_9165dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.2419-276_2419-269dup (PALD1)	ENSP00000513342.1:n.2419-276_2419-269dup
ENST00000697572.1:c.2250+34093_2250+34100dup (PALD1)	ENSP00000513343.1:n.2250+34093_2250+34100dup
ENST00000697573.1:c.2263-276_2263-269dup (PALD1)	ENSP00000513344.1:n.2263-276_2263-269dup
ENST00000697577.1:n.2723-276_2723-269dup (PALD1)
ENST00000697578.1:n.2567-276_2567-269dup (PALD1)
ENST00000441259.2:c.1103_1110dup (PRF1) MANE Select	ENSP00000398568.1:p.Arg371Ter
ENST00000638674.1:c.540-777_540-770dup (PRF1)	ENSP00000492048.1:n.540-777_540-770dup
ENST00000639390.1:n.98-777_98-770dup (PRF1)
ENST00000373209.2:c.1103_1110dup (PRF1)	ENSP00000362305.1:p.Arg371Ter
ENST00000441259.1:c.1103_1110dup (PRF1)	ENSP00000398568.1:p.Arg371Ter
NM_001083116.1:c.1103_1110dup , LRG_94t1:c.1103_1110dup (PRF1)	NP_001076585.1:p.Arg371Ter
NM_005041.4:c.1103_1110dup (PRF1)	NP_005032.2:p.Arg371Ter
NM_001083116.2:c.1103_1110dup (PRF1)	NP_001076585.1:p.Arg371Ter
NM_005041.5:c.1103_1110dup (PRF1)	NP_005032.2:p.Arg371Ter
NM_001083116.3:c.1103_1110dup (PRF1) MANE Select	NP_001076585.1:p.Arg371Ter
NM_005041.6:c.1103_1110dup (PRF1)	NP_005032.2:p.Arg371Ter