Canonical Allele Identifier: CA2695212086

Gene: PALD1 PRF1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70598874_70598879del , CM000672.2:g.70598874_70598879del	GRCh38
NC_000010.10:g.72358630_72358635del , CM000672.1:g.72358630_72358635del	GRCh37
NC_000010.9:g.72028636_72028641del	NCBI36
NG_009615.1:g.8905_8910del , LRG_94:g.8905_8910del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.2419-14_2419-9del (PALD1)	ENSP00000513342.1:n.2419-14_2419-9del
ENST00000697572.1:c.2250+34355_2250+34360del (PALD1)	ENSP00000513343.1:n.2250+34355_2250+34360del
ENST00000697573.1:c.2263-14_2263-9del (PALD1)	ENSP00000513344.1:n.2263-14_2263-9del
ENST00000697577.1:n.2723-14_2723-9del (PALD1)
ENST00000697578.1:n.2567-14_2567-9del (PALD1)
ENST00000441259.2:c.850_855del (PRF1) MANE Select	ENSP00000398568.1:p.Lys284_Lys285del
ENST00000638674.1:c.540-1030_540-1025del (PRF1)	ENSP00000492048.1:n.540-1030_540-1025del
ENST00000639390.1:n.98-1030_98-1025del (PRF1)
ENST00000373209.2:c.850_855del (PRF1)	ENSP00000362305.1:p.Lys284_Lys285del
ENST00000441259.1:c.850_855del (PRF1)	ENSP00000398568.1:p.Lys284_Lys285del
NM_001083116.1:c.850_855del , LRG_94t1:c.850_855del (PRF1)	NP_001076585.1:p.Lys284_Lys285del
NM_005041.4:c.850_855del (PRF1)	NP_005032.2:p.Lys284_Lys285del
NM_001083116.2:c.850_855del (PRF1)	NP_001076585.1:p.Lys284_Lys285del
NM_005041.5:c.850_855del (PRF1)	NP_005032.2:p.Lys284_Lys285del
NM_001083116.3:c.850_855del (PRF1) MANE Select	NP_001076585.1:p.Lys284_Lys285del
NM_005041.6:c.850_855del (PRF1)	NP_005032.2:p.Lys284_Lys285del