Canonical Allele Identifier: CA2574572180

Gene: PALD1 PRF1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70598107_70598108del , CM000672.2:g.70598107_70598108del	GRCh38
NC_000010.10:g.72357863_72357864del , CM000672.1:g.72357863_72357864del	GRCh37
NC_000010.9:g.72027869_72027870del	NCBI36
NG_009615.1:g.9668_9669del , LRG_94:g.9668_9669del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.2419-781_2419-780del (PALD1)	ENSP00000513342.1:n.2419-781_2419-780del
ENST00000697572.1:c.2250+33588_2250+33589del (PALD1)	ENSP00000513343.1:n.2250+33588_2250+33589del
ENST00000697573.1:c.2263-781_2263-780del (PALD1)	ENSP00000513344.1:n.2263-781_2263-780del
ENST00000697577.1:n.2723-781_2723-780del (PALD1)
ENST00000697578.1:n.2567-781_2567-780del (PALD1)
ENST00000441259.2:c.1613_1614del (PRF1) MANE Select	ENSP00000398568.1:p.Val538AlafsTer?
ENST00000638674.1:c.540-267_540-266del (PRF1)	ENSP00000492048.1:n.540-267_540-266del
ENST00000639390.1:n.98-267_98-266del (PRF1)
ENST00000373209.2:c.1613_1614del (PRF1)	ENSP00000362305.1:p.Val538AlafsTer?
ENST00000441259.1:c.1613_1614del (PRF1)	ENSP00000398568.1:p.Val538AlafsTer?
NM_001083116.1:c.1613_1614del , LRG_94t1:c.1613_1614del (PRF1)	NP_001076585.1:p.Val538AlafsTer?
NM_005041.4:c.1613_1614del (PRF1)	NP_005032.2:p.Val538AlafsTer?
NM_001083116.2:c.1613_1614del (PRF1)	NP_001076585.1:p.Val538AlafsTer?
NM_005041.5:c.1613_1614del (PRF1)	NP_005032.2:p.Val538AlafsTer?
NM_001083116.3:c.1613_1614del (PRF1) MANE Select	NP_001076585.1:p.Val538AlafsTer?
NM_005041.6:c.1613_1614del (PRF1)	NP_005032.2:p.Val538AlafsTer?