Canonical Allele Identifier: CA2635351552

Gene: PAFAH1B1

Linked Data

• gnomAD v4: 17-2676507-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2676514dup , CM000679.2:g.2676514dup	GRCh38
NC_000017.10:g.2579808dup , CM000679.1:g.2579808dup	GRCh37
NC_000017.9:g.2526558dup	NCBI36
NG_009799.1:g.87886dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.910dup MANE Select	ENSP00000380378.4:p.Ser304LysfsTer3
ENST00000571495.2:n.1995dup
ENST00000674608.1:c.964dup	ENSP00000501976.1:p.Ser322LysfsTer3
ENST00000674717.1:c.715dup	ENSP00000501931.1:p.Ser239LysfsTer3
ENST00000675084.1:n.164dup
ENST00000675202.1:c.910dup	ENSP00000502843.1:p.Ser304LysfsTer3
ENST00000675331.1:c.910dup	ENSP00000502031.1:p.Ser304LysfsTer3
ENST00000675385.1:n.524dup
ENST00000675390.1:c.910dup	ENSP00000501969.1:p.Ser304LysfsTer3
ENST00000675574.1:n.3965dup
ENST00000675621.1:c.910dup	ENSP00000502117.1:p.Ser304LysfsTer3
ENST00000675764.1:c.*864dup	ENSP00000502242.1:n.*864dup
ENST00000676077.1:c.*228dup	ENSP00000502507.1:n.*228dup
ENST00000676098.1:c.910dup	ENSP00000502735.1:p.Ser304LysfsTer3
ENST00000676188.1:c.910dup	ENSP00000502577.1:p.Ser304LysfsTer3
ENST00000676353.1:c.715dup	ENSP00000502737.1:p.Ser239LysfsTer3
ENST00000397193.7:n.718dup
ENST00000397195.9:c.910dup	ENSP00000380378.4:p.Ser304LysfsTer3
ENST00000571495.1:n.634dup
ENST00000572915.6:n.676+2418dup
ENST00000574468.1:c.396+2226dup	ENSP00000460591.1:n.396+2226dup
ENST00000574816.5:n.231dup
NM_000430.3:c.910dup	NP_000421.1:p.Ser304LysfsTer3
XM_011523901.1:c.964dup	XP_011522203.1:p.Ser322LysfsTer3
XM_011523902.1:c.964dup	XP_011522204.1:p.Ser322LysfsTer3
XM_011523903.1:c.964dup	XP_011522205.1:p.Ser322LysfsTer3
XM_011523901.2:c.964dup	XP_011522203.1:p.Ser322LysfsTer3
XM_011523902.3:c.964dup	XP_011522204.1:p.Ser322LysfsTer3
XM_011523903.2:c.964dup	XP_011522205.1:p.Ser322LysfsTer3
XM_017024701.1:c.910dup	XP_016880190.1:p.Ser304LysfsTer3
XM_017024702.2:c.715dup	XP_016880191.1:p.Ser239LysfsTer3
NM_000430.4:c.910dup MANE Select	NP_000421.1:p.Ser304LysfsTer3