Canonical Allele Identifier: CA1918323159

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70601012_70601022delinsGGAGGGGCTGA , CM000672.2:g.70601012_70601022delinsGGAGGGGCTGA GRCh38
NC_000010.10:g.72360768_72360778delinsGGAGGGGCTGA , CM000672.1:g.72360768_72360778delinsGGAGGGGCTGA GRCh37
NC_000010.9:g.72030774_72030784delinsGGAGGGGCTGA NCBI36
NG_009615.1:g.6754_6764delinsTCAGCCCCTCC , LRG_94:g.6754_6764delinsTCAGCCCCTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000697571.1:c.*17+1928_*17+1938delinsGGAGGGGCTGA (PALD1) ENSP00000513342.1:n.*17+1928_*17+1938delinsGGAGGGGCTGA
ENST00000697572.1:c.2250+36493_2250+36503delinsGGAGGGGCTGA (PALD1) ENSP00000513343.1:n.2250+36493_2250+36503delinsGGAGGGGCTGA
ENST00000697573.1:c.*17+1928_*17+1938delinsGGAGGGGCTGA (PALD1) ENSP00000513344.1:n.*17+1928_*17+1938delinsGGAGGGGCTGA
ENST00000697577.1:n.2919+1928_2919+1938delinsGGAGGGGCTGA (PALD1)
ENST00000697578.1:n.2763+1928_2763+1938delinsGGAGGGGCTGA (PALD1)
ENST00000441259.2:c.-30-90_-30-80delinsTCAGCCCCTCC (PRF1) MANE Select ENSP00000398568.1:n.-30-90_-30-80delinsTCAGCCCCTCC
ENST00000638674.1:c.-4-116_-4-106delinsTCAGCCCCTCC (PRF1) ENSP00000492048.1:n.-4-116_-4-106delinsTCAGCCCCTCC
ENST00000639390.1:n.97+1623_97+1633delinsTCAGCCCCTCC (PRF1)
ENST00000373209.2:c.-4-116_-4-106delinsTCAGCCCCTCC (PRF1) ENSP00000362305.1:n.-4-116_-4-106delinsTCAGCCCCTCC
ENST00000441259.1:c.-30-90_-30-80delinsTCAGCCCCTCC (PRF1) ENSP00000398568.1:n.-30-90_-30-80delinsTCAGCCCCTCC
NM_001083116.1:c.-30-90_-30-80delinsTCAGCCCCTCC , LRG_94t1:c.-30-90_-30-80delinsTCAGCCCCTCC (PRF1) NP_001076585.1:n.-30-90_-30-80delinsTCAGCCCCTCC
NM_005041.4:c.-4-116_-4-106delinsTCAGCCCCTCC (PRF1) NP_005032.2:n.-4-116_-4-106delinsTCAGCCCCTCC
NM_001083116.2:c.-30-90_-30-80delinsTCAGCCCCTCC (PRF1) NP_001076585.1:n.-30-90_-30-80delinsTCAGCCCCTCC
NM_005041.5:c.-4-116_-4-106delinsTCAGCCCCTCC (PRF1) NP_005032.2:n.-4-116_-4-106delinsTCAGCCCCTCC
NM_001083116.3:c.-30-90_-30-80delinsTCAGCCCCTCC (PRF1) MANE Select NP_001076585.1:n.-30-90_-30-80delinsTCAGCCCCTCC
NM_005041.6:c.-4-116_-4-106delinsTCAGCCCCTCC (PRF1) NP_005032.2:n.-4-116_-4-106delinsTCAGCCCCTCC