Canonical Allele Identifier: CA8283128

Gene: PAFAH1B1

Linked Data

• dbSNP Id: rs774239964
• ExAC: 17:2569385 GTAAC / G
• gnomAD v2: 17-2569385-GTAAC-G
• gnomAD v4: 17-2666091-GTAAC-G
• MyVariant Identifiers: chr17:g.2569386_2569389del (hg19) ; chr17:g.2666092_2666095del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2666095_2666098del , CM000679.2:g.2666095_2666098del	GRCh38
NC_000017.10:g.2569389_2569392del , CM000679.1:g.2569389_2569392del	GRCh37
NC_000017.9:g.2516139_2516142del	NCBI36
NG_009799.1:g.77467_77470del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.192+5_192+8del MANE Select	ENSP00000380378.4:n.192+5_192+8del
ENST00000674608.1:c.246+5_246+8del	ENSP00000501976.1:n.246+5_246+8del
ENST00000674717.1:c.-3-897_-3-894del	ENSP00000501931.1:n.-3-897_-3-894del
ENST00000675202.1:c.192+5_192+8del	ENSP00000502843.1:n.192+5_192+8del
ENST00000675331.1:c.192+5_192+8del	ENSP00000502031.1:n.192+5_192+8del
ENST00000675390.1:c.192+5_192+8del	ENSP00000501969.1:n.192+5_192+8del
ENST00000675430.1:n.419+5_419+8del
ENST00000675621.1:c.192+5_192+8del	ENSP00000502117.1:n.192+5_192+8del
ENST00000675764.1:c.*146+5_*146+8del	ENSP00000502242.1:n.*146+5_*146+8del
ENST00000676077.1:c.-4+5_-4+8del	ENSP00000502507.1:n.-4+5_-4+8del
ENST00000676098.1:c.192+5_192+8del	ENSP00000502735.1:n.192+5_192+8del
ENST00000676188.1:c.192+5_192+8del	ENSP00000502577.1:n.192+5_192+8del
ENST00000676201.1:n.346+5_346+8del
ENST00000676353.1:c.-4+5_-4+8del	ENSP00000502737.1:n.-4+5_-4+8del
ENST00000676456.1:n.297+5_297+8del
ENST00000397195.9:c.192+5_192+8del	ENSP00000380378.4:n.192+5_192+8del
ENST00000570400.1:c.*62+5_*62+8del	ENSP00000460258.1:n.*62+5_*62+8del
ENST00000572915.6:n.273-897_273-894del
ENST00000574816.5:n.31-10219_31-10216del
ENST00000576586.5:c.192+5_192+8del	ENSP00000461087.1:n.192+5_192+8del
ENST00000609078.1:n.151+5_151+8del
NM_000430.3:c.192+5_192+8del	NP_000421.1:n.192+5_192+8del
XM_011523901.1:c.246+5_246+8del	XP_011522203.1:n.246+5_246+8del
XM_011523902.1:c.246+5_246+8del	XP_011522204.1:n.246+5_246+8del
XM_011523903.1:c.246+5_246+8del	XP_011522205.1:n.246+5_246+8del
XM_011523904.1:c.246+5_246+8del	XP_011522206.1:n.246+5_246+8del
XM_011523901.2:c.246+5_246+8del	XP_011522203.1:n.246+5_246+8del
XM_011523902.3:c.246+5_246+8del	XP_011522204.1:n.246+5_246+8del
XM_011523903.2:c.246+5_246+8del	XP_011522205.1:n.246+5_246+8del
XM_017024701.1:c.192+5_192+8del	XP_016880190.1:n.192+5_192+8del
XM_017024702.2:c.-4+5_-4+8del	XP_016880191.1:n.-4+5_-4+8del
NM_000430.4:c.192+5_192+8del MANE Select	NP_000421.1:n.192+5_192+8del