Canonical Allele Identifier: CA891843983

Gene: PAFAH1B1

Linked Data

• ClinVar Variation Id: 8075
• ClinVar RCV Id: RCV000008542
• dbSNP Id: rs1567561137
• MyVariant Identifiers: chr17:g.2579889_2579910del (hg19) ; chr17:g.2676595_2676616del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2676595_2676616del , CM000679.2:g.2676595_2676616del	GRCh38
NC_000017.10:g.2579889_2579910del , CM000679.1:g.2579889_2579910del	GRCh37
NC_000017.9:g.2526639_2526660del	NCBI36
NG_009799.1:g.87967_87988del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.991_1002+10del
ENST00000571495.2:n.2076_2087+10del
ENST00000674608.1:c.1045_1056+10del
ENST00000674717.1:c.796_807+10del
ENST00000675084.1:n.245_256+10del
ENST00000675202.1:c.991_1002+10del
ENST00000675331.1:c.991_1002+10del
ENST00000675385.1:n.605_616+10del
ENST00000675390.1:c.991_1002+10del
ENST00000675574.1:n.4046_4057+10del
ENST00000675621.1:c.991_1002+10del
ENST00000675764.1:c.*945_*956+10del
ENST00000676077.1:c.*309_*320+10del
ENST00000676098.1:c.991_1002+10del
ENST00000676188.1:c.991_1002+10del
ENST00000676353.1:c.796_807+10del
ENST00000397193.7:n.799_810+10del
ENST00000397195.9:c.991_1002+10del
ENST00000571495.1:n.715_726+10del
ENST00000572915.6:n.676+2499_676+2520del
ENST00000574468.1:c.396+2307_396+2328del	ENSP00000460591.1:n.396+2307_396+2328del
ENST00000574816.5:n.312_323+10del
NM_000430.3:c.991_1002+10del
XM_011523901.1:c.1045_1056+10del
XM_011523902.1:c.1045_1056+10del
XM_011523903.1:c.1045_1056+10del
XM_011523901.2:c.1045_1056+10del
XM_011523902.3:c.1045_1056+10del
XM_011523903.2:c.1045_1056+10del
XM_017024701.1:c.991_1002+10del
XM_017024702.2:c.796_807+10del
NM_000430.4:c.991_1002+10del