Canonical Allele Identifier: CA980774831

Gene: PAFAH1B1

Linked Data

• gnomAD v3: 17-2666042-TGGTCTTTTG-T
• gnomAD v4: 17-2666042-TGGTCTTTTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2666044_2666052del , CM000679.2:g.2666044_2666052del	GRCh38
NC_000017.10:g.2569338_2569346del , CM000679.1:g.2569338_2569346del	GRCh37
NC_000017.9:g.2516088_2516096del	NCBI36
NG_009799.1:g.77416_77424del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.146_154del MANE Select	ENSP00000380378.4:p.Gly49_Leu51del
ENST00000674608.1:c.200_208del	ENSP00000501976.1:p.Gly67_Leu69del
ENST00000674717.1:c.-3-948_-3-940del	ENSP00000501931.1:n.-3-948_-3-940del
ENST00000675202.1:c.146_154del	ENSP00000502843.1:p.Gly49_Leu51del
ENST00000675331.1:c.146_154del	ENSP00000502031.1:p.Gly49_Leu51del
ENST00000675390.1:c.146_154del	ENSP00000501969.1:p.Gly49_Leu51del
ENST00000675430.1:n.373_381del
ENST00000675621.1:c.146_154del	ENSP00000502117.1:p.Gly49_Leu51del
ENST00000675764.1:c.*100_*108del	ENSP00000502242.1:n.*100_*108del
ENST00000676077.1:c.-50_-42del	ENSP00000502507.1:n.-50_-42del
ENST00000676098.1:c.146_154del	ENSP00000502735.1:p.Gly49_Leu51del
ENST00000676188.1:c.146_154del	ENSP00000502577.1:p.Gly49_Leu51del
ENST00000676201.1:n.300_308del
ENST00000676353.1:c.-50_-42del	ENSP00000502737.1:n.-50_-42del
ENST00000676456.1:n.251_259del
ENST00000397195.9:c.146_154del	ENSP00000380378.4:p.Gly49_Leu51del
ENST00000570400.1:c.*16_*24del	ENSP00000460258.1:n.*16_*24del
ENST00000572915.6:n.273-948_273-940del
ENST00000574816.5:n.31-10270_31-10262del
ENST00000575477.5:n.648_656del
ENST00000576586.5:c.146_154del	ENSP00000461087.1:p.Gly49_Leu51del
ENST00000609078.1:n.105_113del
NM_000430.3:c.146_154del	NP_000421.1:p.Gly49_Leu51del
XM_011523901.1:c.200_208del	XP_011522203.1:p.Gly67_Leu69del
XM_011523902.1:c.200_208del	XP_011522204.1:p.Gly67_Leu69del
XM_011523903.1:c.200_208del	XP_011522205.1:p.Gly67_Leu69del
XM_011523904.1:c.200_208del	XP_011522206.1:p.Gly67_Leu69del
XM_011523901.2:c.200_208del	XP_011522203.1:p.Gly67_Leu69del
XM_011523902.3:c.200_208del	XP_011522204.1:p.Gly67_Leu69del
XM_011523903.2:c.200_208del	XP_011522205.1:p.Gly67_Leu69del
XM_017024701.1:c.146_154del	XP_016880190.1:p.Gly49_Leu51del
XM_017024702.2:c.-50_-42del	XP_016880191.1:n.-50_-42del
NM_000430.4:c.146_154del MANE Select	NP_000421.1:p.Gly49_Leu51del