Canonical Allele Identifier: CA2243487305

Gene: PAFAH1B1

Linked Data

• dbSNP Id: rs2069094143

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2665485_2665497del , CM000679.2:g.2665485_2665497del	GRCh38
NC_000017.10:g.2568779_2568791del , CM000679.1:g.2568779_2568791del	GRCh37
NC_000017.9:g.2515529_2515541del	NCBI36
NG_009799.1:g.76857_76869del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.117+29_117+41del MANE Select	ENSP00000380378.4:n.117+29_117+41del
ENST00000674608.1:c.171+29_171+41del	ENSP00000501976.1:n.171+29_171+41del
ENST00000674717.1:c.-3-1507_-3-1495del	ENSP00000501931.1:n.-3-1507_-3-1495del
ENST00000675202.1:c.117+29_117+41del	ENSP00000502843.1:n.117+29_117+41del
ENST00000675331.1:c.117+29_117+41del	ENSP00000502031.1:n.117+29_117+41del
ENST00000675390.1:c.117+29_117+41del	ENSP00000501969.1:n.117+29_117+41del
ENST00000675430.1:n.344+29_344+41del
ENST00000675621.1:c.117+29_117+41del	ENSP00000502117.1:n.117+29_117+41del
ENST00000675764.1:c.*71+29_*71+41del	ENSP00000502242.1:n.*71+29_*71+41del
ENST00000676077.1:c.-79+29_-79+41del	ENSP00000502507.1:n.-79+29_-79+41del
ENST00000676098.1:c.117+29_117+41del	ENSP00000502735.1:n.117+29_117+41del
ENST00000676188.1:c.117+29_117+41del	ENSP00000502577.1:n.117+29_117+41del
ENST00000676201.1:n.272-531_272-519del
ENST00000676353.1:c.-78-531_-78-519del	ENSP00000502737.1:n.-78-531_-78-519del
ENST00000676456.1:n.223-531_223-519del
ENST00000397195.9:c.117+29_117+41del	ENSP00000380378.4:n.117+29_117+41del
ENST00000570400.1:c.33-531_33-519del	ENSP00000460258.1:n.33-531_33-519del
ENST00000572915.6:n.273-1507_273-1495del
ENST00000574816.5:n.31-10829_31-10817del
ENST00000575477.5:n.620-531_620-519del
ENST00000576586.5:c.117+29_117+41del	ENSP00000461087.1:n.117+29_117+41del
ENST00000609078.1:n.76+29_76+41del
NM_000430.3:c.117+29_117+41del	NP_000421.1:n.117+29_117+41del
XM_011523901.1:c.171+29_171+41del	XP_011522203.1:n.171+29_171+41del
XM_011523902.1:c.171+29_171+41del	XP_011522204.1:n.171+29_171+41del
XM_011523903.1:c.171+29_171+41del	XP_011522205.1:n.171+29_171+41del
XM_011523904.1:c.171+29_171+41del	XP_011522206.1:n.171+29_171+41del
XM_011523901.2:c.171+29_171+41del	XP_011522203.1:n.171+29_171+41del
XM_011523902.3:c.171+29_171+41del	XP_011522204.1:n.171+29_171+41del
XM_011523903.2:c.171+29_171+41del	XP_011522205.1:n.171+29_171+41del
XM_017024701.1:c.117+29_117+41del	XP_016880190.1:n.117+29_117+41del
XM_017024702.2:c.-78-531_-78-519del	XP_016880191.1:n.-78-531_-78-519del
NM_000430.4:c.117+29_117+41del MANE Select	NP_000421.1:n.117+29_117+41del