Canonical Allele Identifier: CA8283298

Gene: PAFAH1B1

Linked Data

• dbSNP Id: rs777960404
• ExAC: 17:2579942 GT / G
• gnomAD v2: 17-2579942-GT-G
• gnomAD v4: 17-2676648-GT-G
• MyVariant Identifiers: chr17:g.2579943del (hg19) ; chr17:g.2676649del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2676651del , CM000679.2:g.2676651del	GRCh38
NC_000017.10:g.2579945del , CM000679.1:g.2579945del	GRCh37
NC_000017.9:g.2526695del	NCBI36
NG_009799.1:g.88023del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.1002+45del MANE Select	ENSP00000380378.4:n.1002+45del
ENST00000571495.2:n.2087+45del
ENST00000674608.1:c.1056+45del	ENSP00000501976.1:n.1056+45del
ENST00000674717.1:c.807+45del	ENSP00000501931.1:n.807+45del
ENST00000675084.1:n.256+45del
ENST00000675202.1:c.1002+45del	ENSP00000502843.1:n.1002+45del
ENST00000675331.1:c.1002+45del	ENSP00000502031.1:n.1002+45del
ENST00000675385.1:n.616+45del
ENST00000675390.1:c.1002+45del	ENSP00000501969.1:n.1002+45del
ENST00000675574.1:n.4057+45del
ENST00000675621.1:c.1002+45del	ENSP00000502117.1:n.1002+45del
ENST00000675764.1:c.*956+45del	ENSP00000502242.1:n.*956+45del
ENST00000676077.1:c.*320+45del	ENSP00000502507.1:n.*320+45del
ENST00000676098.1:c.1002+45del	ENSP00000502735.1:n.1002+45del
ENST00000676188.1:c.1002+45del	ENSP00000502577.1:n.1002+45del
ENST00000676353.1:c.807+45del	ENSP00000502737.1:n.807+45del
ENST00000397193.7:n.810+45del
ENST00000397195.9:c.1002+45del	ENSP00000380378.4:n.1002+45del
ENST00000571495.1:n.726+45del
ENST00000572915.6:n.676+2555del
ENST00000574468.1:c.396+2363del	ENSP00000460591.1:n.396+2363del
ENST00000574816.5:n.323+45del
NM_000430.3:c.1002+45del	NP_000421.1:n.1002+45del
XM_011523901.1:c.1056+45del	XP_011522203.1:n.1056+45del
XM_011523902.1:c.1056+45del	XP_011522204.1:n.1056+45del
XM_011523903.1:c.1056+45del	XP_011522205.1:n.1056+45del
XM_011523901.2:c.1056+45del	XP_011522203.1:n.1056+45del
XM_011523902.3:c.1056+45del	XP_011522204.1:n.1056+45del
XM_011523903.2:c.1056+45del	XP_011522205.1:n.1056+45del
XM_017024701.1:c.1002+45del	XP_016880190.1:n.1002+45del
XM_017024702.2:c.807+45del	XP_016880191.1:n.807+45del
NM_000430.4:c.1002+45del MANE Select	NP_000421.1:n.1002+45del