Canonical Allele Identifier: CA2695224050

Gene: PAFAH1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2665380_2665381dup , CM000679.2:g.2665380_2665381dup	GRCh38
NC_000017.10:g.2568674_2568675dup , CM000679.1:g.2568674_2568675dup	GRCh37
NC_000017.9:g.2515424_2515425dup	NCBI36
NG_009799.1:g.76752_76753dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.41_42dup MANE Select	ENSP00000380378.4:p.Ile15LeufsTer2
ENST00000674608.1:c.95_96dup	ENSP00000501976.1:p.Ile33LeufsTer2
ENST00000674717.1:c.-3-1612_-3-1611dup	ENSP00000501931.1:n.-3-1612_-3-1611dup
ENST00000675202.1:c.41_42dup	ENSP00000502843.1:p.Ile15LeufsTer2
ENST00000675331.1:c.41_42dup	ENSP00000502031.1:p.Ile15LeufsTer2
ENST00000675390.1:c.41_42dup	ENSP00000501969.1:p.Ile15LeufsTer2
ENST00000675430.1:n.268_269dup
ENST00000675621.1:c.41_42dup	ENSP00000502117.1:p.Ile15LeufsTer2
ENST00000675764.1:c.139_140dup	ENSP00000502242.1:p.Ter48TyrextTer11
ENST00000676077.1:c.-155_-154dup	ENSP00000502507.1:n.-155_-154dup
ENST00000676098.1:c.41_42dup	ENSP00000502735.1:p.Ile15LeufsTer2
ENST00000676188.1:c.41_42dup	ENSP00000502577.1:p.Ile15LeufsTer2
ENST00000676201.1:n.272-636_272-635dup
ENST00000676353.1:c.-78-636_-78-635dup	ENSP00000502737.1:n.-78-636_-78-635dup
ENST00000676456.1:n.223-636_223-635dup
ENST00000397195.9:c.41_42dup	ENSP00000380378.4:p.Ile15LeufsTer2
ENST00000570400.1:c.33-636_33-635dup	ENSP00000460258.1:n.33-636_33-635dup
ENST00000572915.6:n.273-1612_273-1611dup
ENST00000574816.5:n.31-10934_31-10933dup
ENST00000575477.5:n.620-636_620-635dup
ENST00000576586.5:c.41_42dup	ENSP00000461087.1:p.Ile15LeufsTer2
NM_000430.3:c.41_42dup	NP_000421.1:p.Ile15LeufsTer2
XM_011523901.1:c.95_96dup	XP_011522203.1:p.Ile33LeufsTer2
XM_011523902.1:c.95_96dup	XP_011522204.1:p.Ile33LeufsTer2
XM_011523903.1:c.95_96dup	XP_011522205.1:p.Ile33LeufsTer2
XM_011523904.1:c.95_96dup	XP_011522206.1:p.Ile33LeufsTer2
XM_011523901.2:c.95_96dup	XP_011522203.1:p.Ile33LeufsTer2
XM_011523902.3:c.95_96dup	XP_011522204.1:p.Ile33LeufsTer2
XM_011523903.2:c.95_96dup	XP_011522205.1:p.Ile33LeufsTer2
XM_017024701.1:c.41_42dup	XP_016880190.1:p.Ile15LeufsTer2
XM_017024702.2:c.-78-636_-78-635dup	XP_016880191.1:n.-78-636_-78-635dup
NM_000430.4:c.41_42dup MANE Select	NP_000421.1:p.Ile15LeufsTer2