Canonical Allele Identifier: CA286907491

Gene: PAFAH1B1

Linked Data

• dbSNP Id: rs879073467
• gnomAD v2: 17-2576051-GGTAA-G
• gnomAD v4: 17-2672757-GGTAA-G
• MyVariant Identifiers: chr17:g.2576052_2576055del (hg19) ; chr17:g.2672758_2672761del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2672764_2672767del , CM000679.2:g.2672764_2672767del	GRCh38
NC_000017.10:g.2576058_2576061del , CM000679.1:g.2576058_2576061del	GRCh37
NC_000017.9:g.2522808_2522811del	NCBI36
NG_009799.1:g.84136_84139del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.671+7_671+10del MANE Select	ENSP00000380378.4:n.671+7_671+10del
ENST00000571495.2:n.461_464del
ENST00000674608.1:c.725+7_725+10del	ENSP00000501976.1:n.725+7_725+10del
ENST00000674717.1:c.476+7_476+10del	ENSP00000501931.1:n.476+7_476+10del
ENST00000675202.1:c.671+7_671+10del	ENSP00000502843.1:n.671+7_671+10del
ENST00000675331.1:c.671+7_671+10del	ENSP00000502031.1:n.671+7_671+10del
ENST00000675390.1:c.671+7_671+10del	ENSP00000501969.1:n.671+7_671+10del
ENST00000675574.1:n.448_451del
ENST00000675621.1:c.671+7_671+10del	ENSP00000502117.1:n.671+7_671+10del
ENST00000675764.1:c.*625+7_*625+10del	ENSP00000502242.1:n.*625+7_*625+10del
ENST00000676077.1:c.374-1296_374-1293del	ENSP00000502507.1:n.374-1296_374-1293del
ENST00000676098.1:c.671+7_671+10del	ENSP00000502735.1:n.671+7_671+10del
ENST00000676188.1:c.671+7_671+10del	ENSP00000502577.1:n.671+7_671+10del
ENST00000676353.1:c.476+7_476+10del	ENSP00000502737.1:n.476+7_476+10del
ENST00000397193.7:n.479+7_479+10del
ENST00000397195.9:c.671+7_671+10del	ENSP00000380378.4:n.671+7_671+10del
ENST00000572915.6:n.639+7_639+10del
ENST00000574468.1:c.167+7_167+10del	ENSP00000460591.1:n.167+7_167+10del
ENST00000574816.5:n.31-3550_31-3547del
NM_000430.3:c.671+7_671+10del	NP_000421.1:n.671+7_671+10del
XM_011523901.1:c.725+7_725+10del	XP_011522203.1:n.725+7_725+10del
XM_011523902.1:c.725+7_725+10del	XP_011522204.1:n.725+7_725+10del
XM_011523903.1:c.725+7_725+10del	XP_011522205.1:n.725+7_725+10del
XM_011523904.1:c.623-1296_623-1293del	XP_011522206.1:n.623-1296_623-1293del
XM_011523901.2:c.725+7_725+10del	XP_011522203.1:n.725+7_725+10del
XM_011523902.3:c.725+7_725+10del	XP_011522204.1:n.725+7_725+10del
XM_011523903.2:c.725+7_725+10del	XP_011522205.1:n.725+7_725+10del
XM_017024701.1:c.671+7_671+10del	XP_016880190.1:n.671+7_671+10del
XM_017024702.2:c.476+7_476+10del	XP_016880191.1:n.476+7_476+10del
NM_000430.4:c.671+7_671+10del MANE Select	NP_000421.1:n.671+7_671+10del