Canonical Allele Identifier: CA2635320325

Gene: PAFAH1B1

Linked Data

• gnomAD v4: 17-2666052-G-GAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2666053_2666060dup , CM000679.2:g.2666053_2666060dup	GRCh38
NC_000017.10:g.2569347_2569354dup , CM000679.1:g.2569347_2569354dup	GRCh37
NC_000017.9:g.2516097_2516104dup	NCBI36
NG_009799.1:g.77425_77432dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.155_162dup MANE Select	ENSP00000380378.4:p.Trp55LysfsTer17
ENST00000674608.1:c.209_216dup	ENSP00000501976.1:p.Trp73LysfsTer17
ENST00000674717.1:c.-3-939_-3-932dup	ENSP00000501931.1:n.-3-939_-3-932dup
ENST00000675202.1:c.155_162dup	ENSP00000502843.1:p.Trp55LysfsTer17
ENST00000675331.1:c.155_162dup	ENSP00000502031.1:p.Trp55LysfsTer17
ENST00000675390.1:c.155_162dup	ENSP00000501969.1:p.Trp55LysfsTer17
ENST00000675430.1:n.382_389dup
ENST00000675621.1:c.155_162dup	ENSP00000502117.1:p.Trp55LysfsTer17
ENST00000675764.1:c.*109_*116dup	ENSP00000502242.1:n.*109_*116dup
ENST00000676077.1:c.-41_-34dup	ENSP00000502507.1:n.-41_-34dup
ENST00000676098.1:c.155_162dup	ENSP00000502735.1:p.Trp55LysfsTer17
ENST00000676188.1:c.155_162dup	ENSP00000502577.1:p.Trp55LysfsTer17
ENST00000676201.1:n.309_316dup
ENST00000676353.1:c.-41_-34dup	ENSP00000502737.1:n.-41_-34dup
ENST00000676456.1:n.260_267dup
ENST00000397195.9:c.155_162dup	ENSP00000380378.4:p.Trp55LysfsTer17
ENST00000570400.1:c.*25_*32dup	ENSP00000460258.1:n.*25_*32dup
ENST00000572915.6:n.273-939_273-932dup
ENST00000574816.5:n.31-10261_31-10254dup
ENST00000575477.5:n.657_664dup
ENST00000576586.5:c.155_162dup	ENSP00000461087.1:p.Trp55LysfsTer17
ENST00000609078.1:n.114_121dup
NM_000430.3:c.155_162dup	NP_000421.1:p.Trp55LysfsTer17
XM_011523901.1:c.209_216dup	XP_011522203.1:p.Trp73LysfsTer17
XM_011523902.1:c.209_216dup	XP_011522204.1:p.Trp73LysfsTer17
XM_011523903.1:c.209_216dup	XP_011522205.1:p.Trp73LysfsTer17
XM_011523904.1:c.209_216dup	XP_011522206.1:p.Trp73LysfsTer17
XM_011523901.2:c.209_216dup	XP_011522203.1:p.Trp73LysfsTer17
XM_011523902.3:c.209_216dup	XP_011522204.1:p.Trp73LysfsTer17
XM_011523903.2:c.209_216dup	XP_011522205.1:p.Trp73LysfsTer17
XM_017024701.1:c.155_162dup	XP_016880190.1:p.Trp55LysfsTer17
XM_017024702.2:c.-41_-34dup	XP_016880191.1:n.-41_-34dup
NM_000430.4:c.155_162dup MANE Select	NP_000421.1:p.Trp55LysfsTer17