Canonical Allele Identifier: CA2243492366

Gene: PAFAH1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2676238_2676241delinsTGTG , CM000679.2:g.2676238_2676241delinsTGTG	GRCh38
NC_000017.10:g.2579532_2579535delinsTGTG , CM000679.1:g.2579532_2579535delinsTGTG	GRCh37
NC_000017.9:g.2526282_2526285delinsTGTG	NCBI36
NG_009799.1:g.87610_87613delinsTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.901-267_901-264delinsTGTG MANE Select	ENSP00000380378.4:n.901-267_901-264delinsTGTG
ENST00000571495.2:n.1986-267_1986-264delinsTGTG
ENST00000674608.1:c.955-267_955-264delinsTGTG	ENSP00000501976.1:n.955-267_955-264delinsTGTG
ENST00000674717.1:c.706-267_706-264delinsTGTG	ENSP00000501931.1:n.706-267_706-264delinsTGTG
ENST00000675202.1:c.901-267_901-264delinsTGTG	ENSP00000502843.1:n.901-267_901-264delinsTGTG
ENST00000675331.1:c.901-267_901-264delinsTGTG	ENSP00000502031.1:n.901-267_901-264delinsTGTG
ENST00000675385.1:n.324-76_324-73delinsTGTG
ENST00000675390.1:c.901-267_901-264delinsTGTG	ENSP00000501969.1:n.901-267_901-264delinsTGTG
ENST00000675574.1:n.3689_3692delinsTGTG
ENST00000675621.1:c.901-267_901-264delinsTGTG	ENSP00000502117.1:n.901-267_901-264delinsTGTG
ENST00000675764.1:c.*855-267_*855-264delinsTGTG	ENSP00000502242.1:n.*855-267_*855-264delinsTGTG
ENST00000676077.1:c.*219-267_*219-264delinsTGTG	ENSP00000502507.1:n.*219-267_*219-264delinsTGTG
ENST00000676098.1:c.901-267_901-264delinsTGTG	ENSP00000502735.1:n.901-267_901-264delinsTGTG
ENST00000676188.1:c.901-267_901-264delinsTGTG	ENSP00000502577.1:n.901-267_901-264delinsTGTG
ENST00000676353.1:c.706-267_706-264delinsTGTG	ENSP00000502737.1:n.706-267_706-264delinsTGTG
ENST00000397193.7:n.709-267_709-264delinsTGTG
ENST00000397195.9:c.901-267_901-264delinsTGTG	ENSP00000380378.4:n.901-267_901-264delinsTGTG
ENST00000571495.1:n.625-267_625-264delinsTGTG
ENST00000572915.6:n.676+2142_676+2145delinsTGTG
ENST00000574468.1:c.396+1950_396+1953delinsTGTG	ENSP00000460591.1:n.396+1950_396+1953delinsTGTG
ENST00000574816.5:n.31-76_31-73delinsTGTG
NM_000430.3:c.901-267_901-264delinsTGTG	NP_000421.1:n.901-267_901-264delinsTGTG
XM_011523901.1:c.955-267_955-264delinsTGTG	XP_011522203.1:n.955-267_955-264delinsTGTG
XM_011523902.1:c.955-267_955-264delinsTGTG	XP_011522204.1:n.955-267_955-264delinsTGTG
XM_011523903.1:c.955-267_955-264delinsTGTG	XP_011522205.1:n.955-267_955-264delinsTGTG
XM_011523901.2:c.955-267_955-264delinsTGTG	XP_011522203.1:n.955-267_955-264delinsTGTG
XM_011523902.3:c.955-267_955-264delinsTGTG	XP_011522204.1:n.955-267_955-264delinsTGTG
XM_011523903.2:c.955-267_955-264delinsTGTG	XP_011522205.1:n.955-267_955-264delinsTGTG
XM_017024701.1:c.901-267_901-264delinsTGTG	XP_016880190.1:n.901-267_901-264delinsTGTG
XM_017024702.2:c.706-267_706-264delinsTGTG	XP_016880191.1:n.706-267_706-264delinsTGTG
NM_000430.4:c.901-267_901-264delinsTGTG MANE Select	NP_000421.1:n.901-267_901-264delinsTGTG