Canonical Allele Identifier: CA16620347
Gene: PAFAH1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 423104
ClinVar RCV Id: RCV000482585
dbSNP Id: rs1064796229

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.2665456_2665458del , CM000679.2:g.2665456_2665458del GRCh38
NC_000017.10:g.2568750_2568752del , CM000679.1:g.2568750_2568752del GRCh37
NC_000017.9:g.2515500_2515502del NCBI36
NG_009799.1:g.76828_76830del

Transcript Alleles

HGVS Amino-acid change
ENST00000397195.10:c.117_117+2del
ENST00000674608.1:c.171_171+2del
ENST00000674717.1:c.-3-1536_-3-1534del ENSP00000501931.1:n.-3-1536_-3-1534del
ENST00000675202.1:c.117_117+2del
ENST00000675331.1:c.117_117+2del
ENST00000675390.1:c.117_117+2del
ENST00000675430.1:n.344_344+2del
ENST00000675621.1:c.117_117+2del
ENST00000675764.1:c.*71_*71+2del
ENST00000676077.1:c.-79_-79+2del
ENST00000676098.1:c.117_117+2del
ENST00000676188.1:c.117_117+2del
ENST00000676201.1:n.272-560_272-558del
ENST00000676353.1:c.-78-560_-78-558del ENSP00000502737.1:n.-78-560_-78-558del
ENST00000676456.1:n.223-560_223-558del
ENST00000397195.9:c.117_117+2del
ENST00000570400.1:c.33-560_33-558del ENSP00000460258.1:n.33-560_33-558del
ENST00000572915.6:n.273-1536_273-1534del
ENST00000574816.5:n.31-10858_31-10856del
ENST00000575477.5:n.620-560_620-558del
ENST00000576586.5:c.117_117+2del
ENST00000609078.1:n.76_76+2del
NM_000430.3:c.117_117+2del
XM_011523901.1:c.171_171+2del
XM_011523902.1:c.171_171+2del
XM_011523903.1:c.171_171+2del
XM_011523904.1:c.171_171+2del
XM_011523901.2:c.171_171+2del
XM_011523902.3:c.171_171+2del
XM_011523903.2:c.171_171+2del
XM_017024701.1:c.117_117+2del
XM_017024702.2:c.-78-560_-78-558del XP_016880191.1:n.-78-560_-78-558del
NM_000430.4:c.117_117+2del