Canonical Allele Identifier: CA2243487292

Gene: PAFAH1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2665461_2665462delinsGT , CM000679.2:g.2665461_2665462delinsGT	GRCh38
NC_000017.10:g.2568755_2568756delinsGT , CM000679.1:g.2568755_2568756delinsGT	GRCh37
NC_000017.9:g.2515505_2515506delinsGT	NCBI36
NG_009799.1:g.76833_76834delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000397195.10:c.117+5_117+6delinsGT MANE Select	ENSP00000380378.4:n.117+5_117+6delinsGT
ENST00000674608.1:c.171+5_171+6delinsGT	ENSP00000501976.1:n.171+5_171+6delinsGT
ENST00000674717.1:c.-3-1531_-3-1530delinsGT	ENSP00000501931.1:n.-3-1531_-3-1530delins...
ENST00000675202.1:c.117+5_117+6delinsGT	ENSP00000502843.1:n.117+5_117+6delinsGT
ENST00000675331.1:c.117+5_117+6delinsGT	ENSP00000502031.1:n.117+5_117+6delinsGT
ENST00000675390.1:c.117+5_117+6delinsGT	ENSP00000501969.1:n.117+5_117+6delinsGT
ENST00000675430.1:n.344+5_344+6delinsGT
ENST00000675621.1:c.117+5_117+6delinsGT	ENSP00000502117.1:n.117+5_117+6delinsGT
ENST00000675764.1:c.*71+5_*71+6delinsGT	ENSP00000502242.1:n.*71+5_*71+6delinsGT
ENST00000676077.1:c.-79+5_-79+6delinsGT	ENSP00000502507.1:n.-79+5_-79+6delinsGT
ENST00000676098.1:c.117+5_117+6delinsGT	ENSP00000502735.1:n.117+5_117+6delinsGT
ENST00000676188.1:c.117+5_117+6delinsGT	ENSP00000502577.1:n.117+5_117+6delinsGT
ENST00000676201.1:n.272-555_272-554delinsGT
ENST00000676353.1:c.-78-555_-78-554delinsGT	ENSP00000502737.1:n.-78-555_-78-554delins...
ENST00000676456.1:n.223-555_223-554delinsGT
ENST00000397195.9:c.117+5_117+6delinsGT	ENSP00000380378.4:n.117+5_117+6delinsGT
ENST00000570400.1:c.33-555_33-554delinsGT	ENSP00000460258.1:n.33-555_33-554delinsGT...
ENST00000572915.6:n.273-1531_273-1530delinsGT
ENST00000574816.5:n.31-10853_31-10852delinsGT
ENST00000575477.5:n.620-555_620-554delinsGT
ENST00000576586.5:c.117+5_117+6delinsGT	ENSP00000461087.1:n.117+5_117+6delinsGT
ENST00000609078.1:n.76+5_76+6delinsGT
NM_000430.3:c.117+5_117+6delinsGT	NP_000421.1:n.117+5_117+6delinsGT
XM_011523901.1:c.171+5_171+6delinsGT	XP_011522203.1:n.171+5_171+6delinsGT
XM_011523902.1:c.171+5_171+6delinsGT	XP_011522204.1:n.171+5_171+6delinsGT
XM_011523903.1:c.171+5_171+6delinsGT	XP_011522205.1:n.171+5_171+6delinsGT
XM_011523904.1:c.171+5_171+6delinsGT	XP_011522206.1:n.171+5_171+6delinsGT
XM_011523901.2:c.171+5_171+6delinsGT	XP_011522203.1:n.171+5_171+6delinsGT
XM_011523902.3:c.171+5_171+6delinsGT	XP_011522204.1:n.171+5_171+6delinsGT
XM_011523903.2:c.171+5_171+6delinsGT	XP_011522205.1:n.171+5_171+6delinsGT
XM_017024701.1:c.117+5_117+6delinsGT	XP_016880190.1:n.117+5_117+6delinsGT
XM_017024702.2:c.-78-555_-78-554delinsGT	XP_016880191.1:n.-78-555_-78-554delinsGT
NM_000430.4:c.117+5_117+6delinsGT MANE Select	NP_000421.1:n.117+5_117+6delinsGT