Canonical Allele Identifier: CA3054204631

Gene: PEX1

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504825_92504854delinsCTCAGGTCAACC , CM000669.2:g.92504825_92504854delinsCTCAGGTCAACC	GRCh38
NC_000007.13:g.92134139_92134168delinsCTCAGGTCAACC , CM000669.1:g.92134139_92134168delinsCTCAGGTCAACC	GRCh37
NC_000007.12:g.91972075_91972104delinsCTCAGGTCAACC	NCBI36
NG_008341.1:g.28678_28707delinsGGTTGACCTGAG
NG_008341.2:g.28678_28707delinsGGTTGACCTGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1949_1978delinsGGTTGACCTGAG MANE Select	ENSP00000248633.4:p.Glu650GlyfsTer4
ENST00000248633.8:c.1949_1978delinsGGTTGACCTGAG	ENSP00000248633.4:p.Glu650GlyfsTer4
ENST00000428214.5:c.1900+1394_1900+1423delinsGGTTGACCTGAG	ENSP00000394413.1:n.1900+1394_1900+1423delinsGGTTGACCTGAG
ENST00000438045.5:c.983_1012delinsGGTTGACCTGAG	ENSP00000410438.1:p.Glu328GlyfsTer4
ENST00000484913.5:n.1988_2017delinsGGTTGACCTGAG
ENST00000496420.5:n.1625_1654delinsGGTTGACCTGAG
NM_000466.2:c.1949_1978delinsGGTTGACCTGAG	NP_000457.1:p.Glu650GlyfsTer4
NM_001282677.1:c.1900+1394_1900+1423delinsGGTTGACCTGAG	NP_001269606.1:n.1900+1394_1900+1423delinsGGTTGACCTGAG
NM_001282678.1:c.1325_1354delinsGGTTGACCTGAG	NP_001269607.1:p.Glu442GlyfsTer4
XM_005250433.3:c.200_229delinsGGTTGACCTGAG	XP_005250490.1:p.Glu67GlyfsTer4
XR_242246.3:n.2045_2074delinsGGTTGACCTGAG
XM_017012319.2:c.200_229delinsGGTTGACCTGAG	XP_016867808.1:p.Glu67GlyfsTer4
XR_001744808.2:n.976_1005delinsGGTTGACCTGAG
XR_242246.5:n.1996_2025delinsGGTTGACCTGAG
NM_000466.3:c.1949_1978delinsGGTTGACCTGAG MANE Select	NP_000457.1:p.Glu650GlyfsTer4
NM_001282677.2:c.1900+1394_1900+1423delinsGGTTGACCTGAG	NP_001269606.1:n.1900+1394_1900+1423delinsGGTTGACCTGAG
NM_001282678.2:c.1325_1354delinsGGTTGACCTGAG	NP_001269607.1:p.Glu442GlyfsTer4