Canonical Allele Identifier: CA1725941856

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506898_92506903delinsAAACCC , CM000669.2:g.92506898_92506903delinsAAACCC	GRCh38
NC_000007.13:g.92136212_92136217delinsAAACCC , CM000669.1:g.92136212_92136217delinsAAACCC	GRCh37
NC_000007.12:g.91974148_91974153delinsAAACCC	NCBI36
NG_008341.1:g.26629_26634delinsGGGTTT
NG_008341.2:g.26629_26634delinsGGGTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1803+91_1803+96delinsGGGTTT MANE Select	ENSP00000248633.4:n.1803+91_1803+96delinsGGGTTT
ENST00000248633.8:c.1803+91_1803+96delinsGGGTTT	ENSP00000248633.4:n.1803+91_1803+96delinsGGGTTT
ENST00000422866.1:c.621+91_621+96delinsGGGTTT
ENST00000428214.5:c.1803+91_1803+96delinsGGGTTT	ENSP00000394413.1:n.1803+91_1803+96delinsGGGTTT
ENST00000438045.5:c.837+91_837+96delinsGGGTTT	ENSP00000410438.1:n.837+91_837+96delinsGGGTTT
ENST00000484913.5:n.1842+91_1842+96delinsGGGTTT
ENST00000496420.5:n.921_926delinsGGGTTT
NM_000466.2:c.1803+91_1803+96delinsGGGTTT	NP_000457.1:n.1803+91_1803+96delinsGGGTTT
NM_001282677.1:c.1803+91_1803+96delinsGGGTTT	NP_001269606.1:n.1803+91_1803+96delinsGGGTTT
NM_001282678.1:c.1179+91_1179+96delinsGGGTTT	NP_001269607.1:n.1179+91_1179+96delinsGGGTTT
XM_005250433.3:c.54+91_54+96delinsGGGTTT	XP_005250490.1:n.54+91_54+96delinsGGGTTT
XR_242246.3:n.1899+91_1899+96delinsGGGTTT
XM_017012319.2:c.54+91_54+96delinsGGGTTT	XP_016867808.1:n.54+91_54+96delinsGGGTTT
XR_001744808.2:n.830+91_830+96delinsGGGTTT
XR_242246.5:n.1850+91_1850+96delinsGGGTTT
NM_000466.3:c.1803+91_1803+96delinsGGGTTT MANE Select	NP_000457.1:n.1803+91_1803+96delinsGGGTTT
NM_001282677.2:c.1803+91_1803+96delinsGGGTTT	NP_001269606.1:n.1803+91_1803+96delinsGGGTTT
NM_001282678.2:c.1179+91_1179+96delinsGGGTTT	NP_001269607.1:n.1179+91_1179+96delinsGGGTTT