Canonical Allele Identifier: CA286905354

Gene: PAFAH1B1

Linked Data

• dbSNP Id: rs34857040

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2667102dup , CM000679.2:g.2667102dup	GRCh38
NC_000017.10:g.2570396dup , CM000679.1:g.2570396dup	GRCh37
NC_000017.9:g.2517146dup	NCBI36
NG_009799.1:g.78474dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.303dup MANE Select	ENSP00000380378.4:p.Tyr102IlefsTer?
ENST00000674608.1:c.357dup	ENSP00000501976.1:p.Tyr120IlefsTer?
ENST00000674717.1:c.108dup	ENSP00000501931.1:p.Tyr37IlefsTer?
ENST00000675202.1:c.303dup	ENSP00000502843.1:p.Tyr102IlefsTer?
ENST00000675331.1:c.303dup	ENSP00000502031.1:p.Tyr102IlefsTer?
ENST00000675390.1:c.303dup	ENSP00000501969.1:p.Tyr102IlefsTer?
ENST00000675430.1:n.530dup
ENST00000675621.1:c.303dup	ENSP00000502117.1:p.Tyr102IlefsTer?
ENST00000675764.1:c.*257dup	ENSP00000502242.1:n.*257dup
ENST00000676077.1:c.108dup	ENSP00000502507.1:p.Tyr37IlefsTer?
ENST00000676098.1:c.303dup	ENSP00000502735.1:p.Tyr102IlefsTer?
ENST00000676188.1:c.303dup	ENSP00000502577.1:p.Tyr102IlefsTer?
ENST00000676201.1:n.457dup
ENST00000676353.1:c.108dup	ENSP00000502737.1:p.Tyr37IlefsTer?
ENST00000676456.1:n.408dup
ENST00000397195.9:c.303dup	ENSP00000380378.4:p.Tyr102IlefsTer?
ENST00000570400.1:c.*173dup	ENSP00000460258.1:n.*173dup
ENST00000572915.6:n.383dup
ENST00000574816.5:n.31-9212dup
ENST00000609078.1:n.262dup
NM_000430.3:c.303dup	NP_000421.1:p.Tyr102IlefsTer?
XM_011523901.1:c.357dup	XP_011522203.1:p.Tyr120IlefsTer?
XM_011523902.1:c.357dup	XP_011522204.1:p.Tyr120IlefsTer?
XM_011523903.1:c.357dup	XP_011522205.1:p.Tyr120IlefsTer?
XM_011523904.1:c.357dup	XP_011522206.1:p.Tyr120IlefsTer?
XM_011523901.2:c.357dup	XP_011522203.1:p.Tyr120IlefsTer?
XM_011523902.3:c.357dup	XP_011522204.1:p.Tyr120IlefsTer?
XM_011523903.2:c.357dup	XP_011522205.1:p.Tyr120IlefsTer?
XM_017024701.1:c.303dup	XP_016880190.1:p.Tyr102IlefsTer?
XM_017024702.2:c.108dup	XP_016880191.1:p.Tyr37IlefsTer?
NM_000430.4:c.303dup MANE Select	NP_000421.1:p.Tyr102IlefsTer?