Canonical Allele Identifier: CA2788447461

Gene: PALD1 PRF1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70598325_70598326insAAACCAAACACACCCAACA , CM000672.2:g.70598325_70598326insAAACCAAACACACCCAACA	GRCh38
NC_000010.10:g.72358081_72358082insAAACCAAACACACCCAACA , CM000672.1:g.72358081_72358082insAAACCAAACACACCCAACA	GRCh37
NC_000010.9:g.72028087_72028088insAAACCAAACACACCCAACA	NCBI36
NG_009615.1:g.9450_9451insTGTTGGGTGTGTTTGGTTT , LRG_94:g.9450_9451insTGTTGGGTGTGTTTGGTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.2419-563_2419-562insAAACCAAACACACCCAACA (PALD1)	ENSP00000513342.1:n.2419-563_2419-562insAAACCAAACACACCCAACA
ENST00000697572.1:c.2250+33806_2250+33807insAAACCAAACACACCCAACA (PALD1)	ENSP00000513343.1:n.2250+33806_2250+33807insAAACCAAACACACCCAA...
ENST00000697573.1:c.2263-563_2263-562insAAACCAAACACACCCAACA (PALD1)	ENSP00000513344.1:n.2263-563_2263-562insAAACCAAACACACCCAACA
ENST00000697577.1:n.2723-563_2723-562insAAACCAAACACACCCAACA (PALD1)
ENST00000697578.1:n.2567-563_2567-562insAAACCAAACACACCCAACA (PALD1)
ENST00000441259.2:c.1395_1396insTGTTGGGTGTGTTTGGTTT (PRF1) MANE Select	ENSP00000398568.1:p.Asp466CysfsTer7
ENST00000638674.1:c.540-485_540-484insTGTTGGGTGTGTTTGGTTT (PRF1)	ENSP00000492048.1:n.540-485_540-484insTGTTGGGTGTGTTTGGTTT
ENST00000639390.1:n.98-485_98-484insTGTTGGGTGTGTTTGGTTT (PRF1)
ENST00000373209.2:c.1395_1396insTGTTGGGTGTGTTTGGTTT (PRF1)	ENSP00000362305.1:p.Asp466CysfsTer7
ENST00000441259.1:c.1395_1396insTGTTGGGTGTGTTTGGTTT (PRF1)	ENSP00000398568.1:p.Asp466CysfsTer7
NM_001083116.1:c.1395_1396insTGTTGGGTGTGTTTGGTTT , LRG_94t1:c.1395_1396insTGTTGGGTGTGTTTGGTTT (PRF1)	NP_001076585.1:p.Asp466CysfsTer7
NM_005041.4:c.1395_1396insTGTTGGGTGTGTTTGGTTT (PRF1)	NP_005032.2:p.Asp466CysfsTer7
NM_001083116.2:c.1395_1396insTGTTGGGTGTGTTTGGTTT (PRF1)	NP_001076585.1:p.Asp466CysfsTer7
NM_005041.5:c.1395_1396insTGTTGGGTGTGTTTGGTTT (PRF1)	NP_005032.2:p.Asp466CysfsTer7
NM_001083116.3:c.1395_1396insTGTTGGGTGTGTTTGGTTT (PRF1) MANE Select	NP_001076585.1:p.Asp466CysfsTer7
NM_005041.6:c.1395_1396insTGTTGGGTGTGTTTGGTTT (PRF1)	NP_005032.2:p.Asp466CysfsTer7