Canonical Allele Identifier: CA980779704

Gene: PAFAH1B1

Linked Data

• dbSNP Id: rs2069269461
• gnomAD v3: 17-2676436-TAGA-T
• gnomAD v4: 17-2676436-TAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2676439_2676441del , CM000679.2:g.2676439_2676441del	GRCh38
NC_000017.10:g.2579733_2579735del , CM000679.1:g.2579733_2579735del	GRCh37
NC_000017.9:g.2526483_2526485del	NCBI36
NG_009799.1:g.87811_87813del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.901-66_901-64del MANE Select	ENSP00000380378.4:n.901-66_901-64del
ENST00000571495.2:n.1986-66_1986-64del
ENST00000674608.1:c.955-66_955-64del	ENSP00000501976.1:n.955-66_955-64del
ENST00000674717.1:c.706-66_706-64del	ENSP00000501931.1:n.706-66_706-64del
ENST00000675084.1:n.89_91del
ENST00000675202.1:c.901-66_901-64del	ENSP00000502843.1:n.901-66_901-64del
ENST00000675331.1:c.901-66_901-64del	ENSP00000502031.1:n.901-66_901-64del
ENST00000675385.1:n.449_451del
ENST00000675390.1:c.901-66_901-64del	ENSP00000501969.1:n.901-66_901-64del
ENST00000675574.1:n.3890_3892del
ENST00000675621.1:c.901-66_901-64del	ENSP00000502117.1:n.901-66_901-64del
ENST00000675764.1:c.*855-66_*855-64del	ENSP00000502242.1:n.*855-66_*855-64del
ENST00000676077.1:c.*219-66_*219-64del	ENSP00000502507.1:n.*219-66_*219-64del
ENST00000676098.1:c.901-66_901-64del	ENSP00000502735.1:n.901-66_901-64del
ENST00000676188.1:c.901-66_901-64del	ENSP00000502577.1:n.901-66_901-64del
ENST00000676353.1:c.706-66_706-64del	ENSP00000502737.1:n.706-66_706-64del
ENST00000397193.7:n.709-66_709-64del
ENST00000397195.9:c.901-66_901-64del	ENSP00000380378.4:n.901-66_901-64del
ENST00000571495.1:n.625-66_625-64del
ENST00000572915.6:n.676+2343_676+2345del
ENST00000574468.1:c.396+2151_396+2153del	ENSP00000460591.1:n.396+2151_396+2153del
ENST00000574816.5:n.156_158del
NM_000430.3:c.901-66_901-64del	NP_000421.1:n.901-66_901-64del
XM_011523901.1:c.955-66_955-64del	XP_011522203.1:n.955-66_955-64del
XM_011523902.1:c.955-66_955-64del	XP_011522204.1:n.955-66_955-64del
XM_011523903.1:c.955-66_955-64del	XP_011522205.1:n.955-66_955-64del
XM_011523901.2:c.955-66_955-64del	XP_011522203.1:n.955-66_955-64del
XM_011523902.3:c.955-66_955-64del	XP_011522204.1:n.955-66_955-64del
XM_011523903.2:c.955-66_955-64del	XP_011522205.1:n.955-66_955-64del
XM_017024701.1:c.901-66_901-64del	XP_016880190.1:n.901-66_901-64del
XM_017024702.2:c.706-66_706-64del	XP_016880191.1:n.706-66_706-64del
NM_000430.4:c.901-66_901-64del MANE Select	NP_000421.1:n.901-66_901-64del