Canonical Allele Identifier: CA1725940811

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506036_92506037delinsTA , CM000669.2:g.92506036_92506037delinsTA	GRCh38
NC_000007.13:g.92135350_92135351delinsTA , CM000669.1:g.92135350_92135351delinsTA	GRCh37
NC_000007.12:g.91973286_91973287delinsTA	NCBI36
NG_008341.1:g.27495_27496delinsTA
NG_008341.2:g.27495_27496delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1900+211_1900+212delinsTA MANE Select	ENSP00000248633.4:n.1900+211_1900+212delinsTA
ENST00000248633.8:c.1900+211_1900+212delinsTA	ENSP00000248633.4:n.1900+211_1900+212delinsTA
ENST00000422866.1:c.718+211_718+212delinsTA
ENST00000428214.5:c.1900+211_1900+212delinsTA	ENSP00000394413.1:n.1900+211_1900+212delinsTA
ENST00000438045.5:c.934+211_934+212delinsTA	ENSP00000410438.1:n.934+211_934+212delinsTA
ENST00000484913.5:n.1939+211_1939+212delinsTA
ENST00000496420.5:n.1576+211_1576+212delinsTA
NM_000466.2:c.1900+211_1900+212delinsTA	NP_000457.1:n.1900+211_1900+212delinsTA
NM_001282677.1:c.1900+211_1900+212delinsTA	NP_001269606.1:n.1900+211_1900+212delinsTA
NM_001282678.1:c.1276+211_1276+212delinsTA	NP_001269607.1:n.1276+211_1276+212delinsTA
XM_005250433.3:c.151+211_151+212delinsTA	XP_005250490.1:n.151+211_151+212delinsTA
XR_242246.3:n.1996+211_1996+212delinsTA
XM_017012319.2:c.151+211_151+212delinsTA	XP_016867808.1:n.151+211_151+212delinsTA
XR_001744808.2:n.927+211_927+212delinsTA
XR_242246.5:n.1947+211_1947+212delinsTA
NM_000466.3:c.1900+211_1900+212delinsTA MANE Select	NP_000457.1:n.1900+211_1900+212delinsTA
NM_001282677.2:c.1900+211_1900+212delinsTA	NP_001269606.1:n.1900+211_1900+212delinsTA
NM_001282678.2:c.1276+211_1276+212delinsTA	NP_001269607.1:n.1276+211_1276+212delinsTA