Canonical Allele Identifier: CA1725947154

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517306_92517307delinsAT , CM000669.2:g.92517306_92517307delinsAT	GRCh38
NC_000007.13:g.92146620_92146621delinsAT , CM000669.1:g.92146620_92146621delinsAT	GRCh37
NC_000007.12:g.91984556_91984557delinsAT	NCBI36
NG_008341.1:g.16225_16226delinsAT
NG_008341.2:g.16225_16226delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1208_1209delinsAT MANE Select	ENSP00000248633.4:p.Asn403=
ENST00000248633.8:c.1208_1209delinsAT	ENSP00000248633.4:p.Asn403=
ENST00000422866.1:c.109_110delinsAT
ENST00000428214.5:c.1208_1209delinsAT	ENSP00000394413.1:p.Asn403=
ENST00000438045.5:c.274-3340_274-3339delinsAT	ENSP00000410438.1:n.274-3340_274-3339delinsAT
ENST00000484913.5:n.1247_1248delinsAT
NM_000466.2:c.1208_1209delinsAT	NP_000457.1:p.Asn403=
NM_001282677.1:c.1208_1209delinsAT	NP_001269606.1:p.Asn403=
NM_001282678.1:c.584_585delinsAT	NP_001269607.1:p.Asn195=
XR_242246.3:n.1304_1305delinsAT
XM_017012319.2:c.-459_-458delinsAT	XP_016867808.1:n.-459_-458delinsAT
XR_001744808.2:n.318_319delinsAT
XR_242246.5:n.1255_1256delinsAT
NM_000466.3:c.1208_1209delinsAT MANE Select	NP_000457.1:p.Asn403=
NM_001282677.2:c.1208_1209delinsAT	NP_001269606.1:p.Asn403=
NM_001282678.2:c.584_585delinsAT	NP_001269607.1:p.Asn195=