Canonical Allele Identifier: CA1725947443

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517518_92517520delinsCAT , CM000669.2:g.92517518_92517520delinsCAT	GRCh38
NC_000007.13:g.92146832_92146834delinsCAT , CM000669.1:g.92146832_92146834delinsCAT	GRCh37
NC_000007.12:g.91984768_91984770delinsCAT	NCBI36
NG_008341.1:g.16012_16014delinsATG
NG_008341.2:g.16012_16014delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.995_997delinsATG MANE Select	ENSP00000248633.4:p.Tyr332=
ENST00000248633.8:c.995_997delinsATG	ENSP00000248633.4:p.Tyr332=
ENST00000428214.5:c.995_997delinsATG	ENSP00000394413.1:p.Tyr332=
ENST00000438045.5:c.274-3553_274-3551delinsATG	ENSP00000410438.1:n.274-3553_274-3551delinsATG
ENST00000484913.5:n.1034_1036delinsATG
NM_000466.2:c.995_997delinsATG	NP_000457.1:p.Tyr332=
NM_001282677.1:c.995_997delinsATG	NP_001269606.1:p.Tyr332=
NM_001282678.1:c.371_373delinsATG	NP_001269607.1:p.Tyr124=
XR_242246.3:n.1091_1093delinsATG
XM_017012319.2:c.-672_-670delinsATG	XP_016867808.1:n.-672_-670delinsATG
XR_001744808.2:n.105_107delinsATG
XR_242246.5:n.1042_1044delinsATG
NM_000466.3:c.995_997delinsATG MANE Select	NP_000457.1:p.Tyr332=
NM_001282677.2:c.995_997delinsATG	NP_001269606.1:p.Tyr332=
NM_001282678.2:c.371_373delinsATG	NP_001269607.1:p.Tyr124=