Canonical Allele Identifier: CA929714611

Gene: PALD1 PRF1

Linked Data

• dbSNP Id: rs1848166927
• gnomAD v3: 10-70598613-CCG-C
• gnomAD v4: 10-70598613-CCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70598614_70598615del , CM000672.2:g.70598614_70598615del	GRCh38
NC_000010.10:g.72358370_72358371del , CM000672.1:g.72358370_72358371del	GRCh37
NC_000010.9:g.72028376_72028377del	NCBI36
NG_009615.1:g.9161_9162del , LRG_94:g.9161_9162del

Transcript Alleles

HGVS	Amino-acid change
ENST00000697571.1:c.2419-274_2419-273del (PALD1)	ENSP00000513342.1:n.2419-274_2419-273del
ENST00000697572.1:c.2250+34095_2250+34096del (PALD1)	ENSP00000513343.1:n.2250+34095_2250+34096del
ENST00000697573.1:c.2263-274_2263-273del (PALD1)	ENSP00000513344.1:n.2263-274_2263-273del
ENST00000697577.1:n.2723-274_2723-273del (PALD1)
ENST00000697578.1:n.2567-274_2567-273del (PALD1)
ENST00000441259.2:c.1106_1107del (PRF1) MANE Select	ENSP00000398568.1:p.Thr369ArgfsTer?
ENST00000638674.1:c.540-774_540-773del (PRF1)	ENSP00000492048.1:n.540-774_540-773del
ENST00000639390.1:n.98-774_98-773del (PRF1)
ENST00000373209.2:c.1106_1107del (PRF1)	ENSP00000362305.1:p.Thr369ArgfsTer?
ENST00000441259.1:c.1106_1107del (PRF1)	ENSP00000398568.1:p.Thr369ArgfsTer?
NM_001083116.1:c.1106_1107del , LRG_94t1:c.1106_1107del (PRF1)	NP_001076585.1:p.Thr369ArgfsTer?
NM_005041.4:c.1106_1107del (PRF1)	NP_005032.2:p.Thr369ArgfsTer?
NM_001083116.2:c.1106_1107del (PRF1)	NP_001076585.1:p.Thr369ArgfsTer?
NM_005041.5:c.1106_1107del (PRF1)	NP_005032.2:p.Thr369ArgfsTer?
NM_001083116.3:c.1106_1107del (PRF1) MANE Select	NP_001076585.1:p.Thr369ArgfsTer?
NM_005041.6:c.1106_1107del (PRF1)	NP_005032.2:p.Thr369ArgfsTer?