Canonical Allele Identifier: CA2574572183

Gene: PALD1 PRF1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70598967_70598969del , CM000672.2:g.70598967_70598969del	GRCh38
NC_000010.10:g.72358723_72358725del , CM000672.1:g.72358723_72358725del	GRCh37
NC_000010.9:g.72028729_72028731del	NCBI36
NG_009615.1:g.8809_8811del , LRG_94:g.8809_8811del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.2498_2500del (PALD1)	ENSP00000513342.1:p.Leu833del
ENST00000697572.1:c.2250+34448_2250+34450del (PALD1)	ENSP00000513343.1:n.2250+34448_2250+34450del
ENST00000697573.1:c.2342_2344del (PALD1)	ENSP00000513344.1:p.Leu781del
ENST00000697577.1:n.2802_2804del (PALD1)
ENST00000697578.1:n.2646_2648del (PALD1)
ENST00000441259.2:c.754_756del (PRF1) MANE Select	ENSP00000398568.1:p.Asn252del
ENST00000638674.1:c.540-1126_540-1124del (PRF1)	ENSP00000492048.1:n.540-1126_540-1124del
ENST00000639390.1:n.98-1126_98-1124del (PRF1)
ENST00000373209.2:c.754_756del (PRF1)	ENSP00000362305.1:p.Asn252del
ENST00000441259.1:c.754_756del (PRF1)	ENSP00000398568.1:p.Asn252del
NM_001083116.1:c.754_756del , LRG_94t1:c.754_756del (PRF1)	NP_001076585.1:p.Asn252del
NM_005041.4:c.754_756del (PRF1)	NP_005032.2:p.Asn252del
NM_001083116.2:c.754_756del (PRF1)	NP_001076585.1:p.Asn252del
NM_005041.5:c.754_756del (PRF1)	NP_005032.2:p.Asn252del
NM_001083116.3:c.754_756del (PRF1) MANE Select	NP_001076585.1:p.Asn252del
NM_005041.6:c.754_756del (PRF1)	NP_005032.2:p.Asn252del