Canonical Allele Identifier: CA2635320154

Gene: PAFAH1B1

Linked Data

• gnomAD v4: 17-2665526-CAGTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2665528_2665531del , CM000679.2:g.2665528_2665531del	GRCh38
NC_000017.10:g.2568822_2568825del , CM000679.1:g.2568822_2568825del	GRCh37
NC_000017.9:g.2515572_2515575del	NCBI36
NG_009799.1:g.76900_76903del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.117+72_117+75del MANE Select	ENSP00000380378.4:n.117+72_117+75del
ENST00000674608.1:c.171+72_171+75del	ENSP00000501976.1:n.171+72_171+75del
ENST00000674717.1:c.-3-1464_-3-1461del	ENSP00000501931.1:n.-3-1464_-3-1461del
ENST00000675202.1:c.117+72_117+75del	ENSP00000502843.1:n.117+72_117+75del
ENST00000675331.1:c.117+72_117+75del	ENSP00000502031.1:n.117+72_117+75del
ENST00000675390.1:c.117+72_117+75del	ENSP00000501969.1:n.117+72_117+75del
ENST00000675430.1:n.344+72_344+75del
ENST00000675621.1:c.117+72_117+75del	ENSP00000502117.1:n.117+72_117+75del
ENST00000675764.1:c.*71+72_*71+75del	ENSP00000502242.1:n.*71+72_*71+75del
ENST00000676077.1:c.-79+72_-79+75del	ENSP00000502507.1:n.-79+72_-79+75del
ENST00000676098.1:c.117+72_117+75del	ENSP00000502735.1:n.117+72_117+75del
ENST00000676188.1:c.117+72_117+75del	ENSP00000502577.1:n.117+72_117+75del
ENST00000676201.1:n.272-488_272-485del
ENST00000676353.1:c.-78-488_-78-485del	ENSP00000502737.1:n.-78-488_-78-485del
ENST00000676456.1:n.223-488_223-485del
ENST00000397195.9:c.117+72_117+75del	ENSP00000380378.4:n.117+72_117+75del
ENST00000570400.1:c.33-488_33-485del	ENSP00000460258.1:n.33-488_33-485del
ENST00000572915.6:n.273-1464_273-1461del
ENST00000574816.5:n.31-10786_31-10783del
ENST00000575477.5:n.620-488_620-485del
ENST00000576586.5:c.117+72_117+75del	ENSP00000461087.1:n.117+72_117+75del
ENST00000609078.1:n.76+72_76+75del
NM_000430.3:c.117+72_117+75del	NP_000421.1:n.117+72_117+75del
XM_011523901.1:c.171+72_171+75del	XP_011522203.1:n.171+72_171+75del
XM_011523902.1:c.171+72_171+75del	XP_011522204.1:n.171+72_171+75del
XM_011523903.1:c.171+72_171+75del	XP_011522205.1:n.171+72_171+75del
XM_011523904.1:c.171+72_171+75del	XP_011522206.1:n.171+72_171+75del
XM_011523901.2:c.171+72_171+75del	XP_011522203.1:n.171+72_171+75del
XM_011523902.3:c.171+72_171+75del	XP_011522204.1:n.171+72_171+75del
XM_011523903.2:c.171+72_171+75del	XP_011522205.1:n.171+72_171+75del
XM_017024701.1:c.117+72_117+75del	XP_016880190.1:n.117+72_117+75del
XM_017024702.2:c.-78-488_-78-485del	XP_016880191.1:n.-78-488_-78-485del
NM_000430.4:c.117+72_117+75del MANE Select	NP_000421.1:n.117+72_117+75del