Canonical Allele Identifier: CA2695212183

Gene: PALD1 PRF1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70598145del , CM000672.2:g.70598145del	GRCh38
NC_000010.10:g.72357901del , CM000672.1:g.72357901del	GRCh37
NC_000010.9:g.72027907del	NCBI36
NG_009615.1:g.9632del , LRG_94:g.9632del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.2419-743del (PALD1)	ENSP00000513342.1:n.2419-743del
ENST00000697572.1:c.2250+33626del (PALD1)	ENSP00000513343.1:n.2250+33626del
ENST00000697573.1:c.2263-743del (PALD1)	ENSP00000513344.1:n.2263-743del
ENST00000697577.1:n.2723-743del (PALD1)
ENST00000697578.1:n.2567-743del (PALD1)
ENST00000441259.2:c.1577del (PRF1) MANE Select	ENSP00000398568.1:p.Leu526CysfsTer?
ENST00000638674.1:c.540-303del (PRF1)	ENSP00000492048.1:n.540-303del
ENST00000639390.1:n.98-303del (PRF1)
ENST00000373209.2:c.1577del (PRF1)	ENSP00000362305.1:p.Leu526CysfsTer?
ENST00000441259.1:c.1577del (PRF1)	ENSP00000398568.1:p.Leu526CysfsTer?
NM_001083116.1:c.1577del , LRG_94t1:c.1577del (PRF1)	NP_001076585.1:p.Leu526CysfsTer?
NM_005041.4:c.1577del (PRF1)	NP_005032.2:p.Leu526CysfsTer?
NM_001083116.2:c.1577del (PRF1)	NP_001076585.1:p.Leu526CysfsTer?
NM_005041.5:c.1577del (PRF1)	NP_005032.2:p.Leu526CysfsTer?
NM_001083116.3:c.1577del (PRF1) MANE Select	NP_001076585.1:p.Leu526CysfsTer?
NM_005041.6:c.1577del (PRF1)	NP_005032.2:p.Leu526CysfsTer?