Canonical Allele Identifier: CA2243487137

Gene: PAFAH1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2665143_2665146delinsAAAG , CM000679.2:g.2665143_2665146delinsAAAG	GRCh38
NC_000017.10:g.2568437_2568440delinsAAAG , CM000679.1:g.2568437_2568440delinsAAAG	GRCh37
NC_000017.9:g.2515187_2515190delinsAAAG	NCBI36
NG_009799.1:g.76515_76518delinsAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.33-229_33-226delinsAAAG MANE Select	ENSP00000380378.4:n.33-229_33-226delinsAAAG
ENST00000674608.1:c.87-229_87-226delinsAAAG	ENSP00000501976.1:n.87-229_87-226delinsAAAG
ENST00000674717.1:c.-3-1849_-3-1846delinsAAAG	ENSP00000501931.1:n.-3-1849_-3-1846delinsAAAG
ENST00000675202.1:c.33-229_33-226delinsAAAG	ENSP00000502843.1:n.33-229_33-226delinsAAAG
ENST00000675331.1:c.33-229_33-226delinsAAAG	ENSP00000502031.1:n.33-229_33-226delinsAAAG
ENST00000675390.1:c.33-229_33-226delinsAAAG	ENSP00000501969.1:n.33-229_33-226delinsAAAG
ENST00000675430.1:n.260-229_260-226delinsAAAG
ENST00000675621.1:c.33-229_33-226delinsAAAG	ENSP00000502117.1:n.33-229_33-226delinsAAAG
ENST00000675764.1:c.131-229_131-226delinsAAAG	ENSP00000502242.1:n.131-229_131-226delinsAAAG
ENST00000676077.1:c.-163-229_-163-226delinsAAAG	ENSP00000502507.1:n.-163-229_-163-226delinsAAAG
ENST00000676098.1:c.33-229_33-226delinsAAAG	ENSP00000502735.1:n.33-229_33-226delinsAAAG
ENST00000676188.1:c.33-229_33-226delinsAAAG	ENSP00000502577.1:n.33-229_33-226delinsAAAG
ENST00000676201.1:n.272-873_272-870delinsAAAG
ENST00000676353.1:c.-78-873_-78-870delinsAAAG	ENSP00000502737.1:n.-78-873_-78-870delinsAAAG
ENST00000676456.1:n.223-873_223-870delinsAAAG
ENST00000397195.9:c.33-229_33-226delinsAAAG	ENSP00000380378.4:n.33-229_33-226delinsAAAG
ENST00000570400.1:c.33-873_33-870delinsAAAG	ENSP00000460258.1:n.33-873_33-870delinsAAAG
ENST00000572915.6:n.273-1849_273-1846delinsAAAG
ENST00000574816.5:n.31-11171_31-11168delinsAAAG
ENST00000575477.5:n.620-873_620-870delinsAAAG
ENST00000576586.5:c.33-229_33-226delinsAAAG	ENSP00000461087.1:n.33-229_33-226delinsAAAG
NM_000430.3:c.33-229_33-226delinsAAAG	NP_000421.1:n.33-229_33-226delinsAAAG
XM_011523901.1:c.87-229_87-226delinsAAAG	XP_011522203.1:n.87-229_87-226delinsAAAG
XM_011523902.1:c.87-229_87-226delinsAAAG	XP_011522204.1:n.87-229_87-226delinsAAAG
XM_011523903.1:c.87-229_87-226delinsAAAG	XP_011522205.1:n.87-229_87-226delinsAAAG
XM_011523904.1:c.87-229_87-226delinsAAAG	XP_011522206.1:n.87-229_87-226delinsAAAG
XM_011523901.2:c.87-229_87-226delinsAAAG	XP_011522203.1:n.87-229_87-226delinsAAAG
XM_011523902.3:c.87-229_87-226delinsAAAG	XP_011522204.1:n.87-229_87-226delinsAAAG
XM_011523903.2:c.87-229_87-226delinsAAAG	XP_011522205.1:n.87-229_87-226delinsAAAG
XM_017024701.1:c.33-229_33-226delinsAAAG	XP_016880190.1:n.33-229_33-226delinsAAAG
XM_017024702.2:c.-78-873_-78-870delinsAAAG	XP_016880191.1:n.-78-873_-78-870delinsAAAG
NM_000430.4:c.33-229_33-226delinsAAAG MANE Select	NP_000421.1:n.33-229_33-226delinsAAAG