Canonical Allele Identifier: CA645372562
Gene: PIBF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 430627
ClinVar RCV Id: RCV000494732
dbSNP Id: rs1131692160

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.72835296_72835297insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA , CM000675.2:g.72835296_72835297insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA GRCh38
NC_000013.10:g.73409434_73409435insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA , CM000675.1:g.73409434_73409435insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA GRCh37
NC_000013.9:g.72307435_72307436insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA NCBI36
NG_053118.1:g.58273_58274insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000326291.11:c.1151_1152insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA MANE Select ENSP00000317144.6:p.Ile384delinsMetLeuArgArgLeuLysThrAsnGlnGl...
ENST00000326291.10:c.1151_1152insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA ENSP00000317144.6:p.Ile384delinsMetLeuArgArgLeuLysThrAsnGlnGl...
ENST00000615625.1:c.-208_-207insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA ENSP00000483286.1:n.-208_-207insGCTTCGCAGATTGAAAACCAACCAAGAAA...
ENST00000617689.4:c.1151_1152insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA ENSP00000478697.1:p.Ile384delinsMetLeuArgArgLeuLysThrAsnGlnGl...
NM_006346.2:c.1151_1152insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA NP_006337.2:p.Ile384delinsMetLeuArgArgLeuLysThrAsnGlnGluIleAs...
XM_006719755.2:c.*7_*8insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA XP_006719818.1:n.*7_*8insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA...
XM_011534881.1:c.1151_1152insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA XP_011533183.1:p.Ile384delinsMetLeuArgArgLeuLysThrAsnGlnGluIl...
XM_011534882.1:c.1151_1152insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA XP_011533184.1:p.Ile384delinsMetLeuArgArgLeuLysThrAsnGlnGluIl...
XM_011534883.1:c.1151_1152insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA XP_011533185.1:p.Ile384delinsMetLeuArgArgLeuLysThrAsnGlnGluIl...
XM_011534884.1:c.1151_1152insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA XP_011533186.1:p.Ile384delinsMetLeuArgArgLeuLysThrAsnGlnGluIl...
XM_011534885.1:c.782_783insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA XP_011533187.1:p.Ile261delinsMetLeuArgArgLeuLysThrAsnGlnGluIl...
XM_011534886.1:c.1151_1152insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA XP_011533188.1:p.Ile384delinsMetLeuArgArgLeuLysThrAsnGlnGluIl...
XR_941461.1:n.1301_1302insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA
NM_001349655.1:c.1151_1152insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA NP_001336584.1:p.Ile384delinsMetLeuArgArgLeuLysThrAsnGlnGluIl...
NM_006346.3:c.1151_1152insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA NP_006337.2:p.Ile384delinsMetLeuArgArgLeuLysThrAsnGlnGluIleAs...
NR_146205.1:n.1548_1549insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA
NR_146206.1:n.1548_1549insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA
XM_011534882.3:c.1151_1152insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA XP_011533184.1:p.Ile384delinsMetLeuArgArgLeuLysThrAsnGlnGluIl...
XM_011534884.3:c.1151_1152insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA XP_011533186.1:p.Ile384delinsMetLeuArgArgLeuLysThrAsnGlnGluIl...
XM_011534885.3:c.782_783insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA XP_011533187.1:p.Ile261delinsMetLeuArgArgLeuLysThrAsnGlnGluIl...
XM_011534886.3:c.1151_1152insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA XP_011533188.1:p.Ile384delinsMetLeuArgArgLeuLysThrAsnGlnGluIl...
XM_017020350.2:c.782_783insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA XP_016875839.1:p.Ile261delinsMetLeuArgArgLeuLysThrAsnGlnGluIl...
XM_017020351.2:c.1151_1152insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA XP_016875840.1:p.Ile384delinsMetLeuArgArgLeuLysThrAsnGlnGluIl...
XM_017020352.2:c.-53_-52insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA XP_016875841.1:n.-53_-52insGCTTCGCAGATTGAAAACCAACCAAGAAATTGAT...
XM_017020354.2:c.-53_-52insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA XP_016875843.1:n.-53_-52insGCTTCGCAGATTGAAAACCAACCAAGAAATTGAT...
XM_024449314.1:c.1151_1152insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA XP_024305082.1:p.Ile384delinsMetLeuArgArgLeuLysThrAsnGlnGluIl...
XR_001749456.2:n.1415_1416insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA
XR_001749457.2:n.1415_1416insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA
XR_001749458.2:n.1415_1416insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA
XR_001749459.2:n.1415_1416insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA
XR_001749460.2:n.1415_1416insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA
XR_002957449.1:n.1415_1416insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA
XR_941461.3:n.1415_1416insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA
NM_006346.4:c.1151_1152insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA MANE Select NP_006337.2:p.Ile384delinsMetLeuArgArgLeuLysThrAsnGlnGluIleAs...
NM_001349655.2:c.1151_1152insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA NP_001336584.1:p.Ile384delinsMetLeuArgArgLeuLysThrAsnGlnGluIl...
NR_146205.2:n.1438_1439insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA
NR_146206.2:n.1438_1439insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA