Canonical Allele Identifier: CA668018213

Linked Data

dbSNP Id: rs1195928211

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70601043_70601047del , CM000672.2:g.70601043_70601047del GRCh38
NC_000010.10:g.72360799_72360803del , CM000672.1:g.72360799_72360803del GRCh37
NC_000010.9:g.72030805_72030809del NCBI36
NG_009615.1:g.6731_6735del , LRG_94:g.6731_6735del

Transcript Alleles

HGVS Amino-acid Change
ENST00000697571.1:c.*17+1959_*17+1963del (PALD1) ENSP00000513342.1:n.*17+1959_*17+1963del
ENST00000697572.1:c.2250+36524_2250+36528del (PALD1) ENSP00000513343.1:n.2250+36524_2250+36528del
ENST00000697573.1:c.*17+1959_*17+1963del (PALD1) ENSP00000513344.1:n.*17+1959_*17+1963del
ENST00000697577.1:n.2919+1959_2919+1963del (PALD1)
ENST00000697578.1:n.2763+1959_2763+1963del (PALD1)
ENST00000441259.2:c.-30-113_-30-109del (PRF1) MANE Select ENSP00000398568.1:n.-30-113_-30-109del
ENST00000638674.1:c.-4-139_-4-135del (PRF1) ENSP00000492048.1:n.-4-139_-4-135del
ENST00000639390.1:n.97+1600_97+1604del (PRF1)
ENST00000373209.2:c.-4-139_-4-135del (PRF1) ENSP00000362305.1:n.-4-139_-4-135del
ENST00000441259.1:c.-30-113_-30-109del (PRF1) ENSP00000398568.1:n.-30-113_-30-109del
NM_001083116.1:c.-30-113_-30-109del , LRG_94t1:c.-30-113_-30-109del (PRF1) NP_001076585.1:n.-30-113_-30-109del
NM_005041.4:c.-4-139_-4-135del (PRF1) NP_005032.2:n.-4-139_-4-135del
NM_001083116.2:c.-30-113_-30-109del (PRF1) NP_001076585.1:n.-30-113_-30-109del
NM_005041.5:c.-4-139_-4-135del (PRF1) NP_005032.2:n.-4-139_-4-135del
NM_001083116.3:c.-30-113_-30-109del (PRF1) MANE Select NP_001076585.1:n.-30-113_-30-109del
NM_005041.6:c.-4-139_-4-135del (PRF1) NP_005032.2:n.-4-139_-4-135del