Canonical Allele Identifier: CA727472449

Gene: PAFAH1B1

Linked Data

• dbSNP Id: rs1461334100
• gnomAD v4: 17-2665300-TTAAA-T
• MyVariant Identifiers: chr17:g.2568595_2568598del (hg19) ; chr17:g.2665301_2665304del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2665306_2665309del , CM000679.2:g.2665306_2665309del	GRCh38
NC_000017.10:g.2568600_2568603del , CM000679.1:g.2568600_2568603del	GRCh37
NC_000017.9:g.2515350_2515353del	NCBI36
NG_009799.1:g.76678_76681del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.33-66_33-63del MANE Select	ENSP00000380378.4:n.33-66_33-63del
ENST00000674608.1:c.87-66_87-63del	ENSP00000501976.1:n.87-66_87-63del
ENST00000674717.1:c.-3-1686_-3-1683del	ENSP00000501931.1:n.-3-1686_-3-1683del
ENST00000675202.1:c.33-66_33-63del	ENSP00000502843.1:n.33-66_33-63del
ENST00000675331.1:c.33-66_33-63del	ENSP00000502031.1:n.33-66_33-63del
ENST00000675390.1:c.33-66_33-63del	ENSP00000501969.1:n.33-66_33-63del
ENST00000675430.1:n.260-66_260-63del
ENST00000675621.1:c.33-66_33-63del	ENSP00000502117.1:n.33-66_33-63del
ENST00000675764.1:c.131-66_131-63del	ENSP00000502242.1:n.131-66_131-63del
ENST00000676077.1:c.-163-66_-163-63del	ENSP00000502507.1:n.-163-66_-163-63del
ENST00000676098.1:c.33-66_33-63del	ENSP00000502735.1:n.33-66_33-63del
ENST00000676188.1:c.33-66_33-63del	ENSP00000502577.1:n.33-66_33-63del
ENST00000676201.1:n.272-710_272-707del
ENST00000676353.1:c.-78-710_-78-707del	ENSP00000502737.1:n.-78-710_-78-707del
ENST00000676456.1:n.223-710_223-707del
ENST00000397195.9:c.33-66_33-63del	ENSP00000380378.4:n.33-66_33-63del
ENST00000570400.1:c.33-710_33-707del	ENSP00000460258.1:n.33-710_33-707del
ENST00000572915.6:n.273-1686_273-1683del
ENST00000574816.5:n.31-11008_31-11005del
ENST00000575477.5:n.620-710_620-707del
ENST00000576586.5:c.33-66_33-63del	ENSP00000461087.1:n.33-66_33-63del
NM_000430.3:c.33-66_33-63del	NP_000421.1:n.33-66_33-63del
XM_011523901.1:c.87-66_87-63del	XP_011522203.1:n.87-66_87-63del
XM_011523902.1:c.87-66_87-63del	XP_011522204.1:n.87-66_87-63del
XM_011523903.1:c.87-66_87-63del	XP_011522205.1:n.87-66_87-63del
XM_011523904.1:c.87-66_87-63del	XP_011522206.1:n.87-66_87-63del
XM_011523901.2:c.87-66_87-63del	XP_011522203.1:n.87-66_87-63del
XM_011523902.3:c.87-66_87-63del	XP_011522204.1:n.87-66_87-63del
XM_011523903.2:c.87-66_87-63del	XP_011522205.1:n.87-66_87-63del
XM_017024701.1:c.33-66_33-63del	XP_016880190.1:n.33-66_33-63del
XM_017024702.2:c.-78-710_-78-707del	XP_016880191.1:n.-78-710_-78-707del
NM_000430.4:c.33-66_33-63del MANE Select	NP_000421.1:n.33-66_33-63del