Canonical Allele Identifier: CA1725947137

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517264_92517265delinsAT , CM000669.2:g.92517264_92517265delinsAT	GRCh38
NC_000007.13:g.92146578_92146579delinsAT , CM000669.1:g.92146578_92146579delinsAT	GRCh37
NC_000007.12:g.91984514_91984515delinsAT	NCBI36
NG_008341.1:g.16267_16268delinsAT
NG_008341.2:g.16267_16268delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1239+11_1239+12delinsAT MANE Select	ENSP00000248633.4:n.1239+11_1239+12delinsAT
ENST00000248633.8:c.1239+11_1239+12delinsAT	ENSP00000248633.4:n.1239+11_1239+12delinsAT
ENST00000422866.1:c.140+11_140+12delinsAT
ENST00000428214.5:c.1239+11_1239+12delinsAT	ENSP00000394413.1:n.1239+11_1239+12delinsAT
ENST00000438045.5:c.274-3298_274-3297delinsAT	ENSP00000410438.1:n.274-3298_274-3297delinsAT
ENST00000484913.5:n.1278+11_1278+12delinsAT
NM_000466.2:c.1239+11_1239+12delinsAT	NP_000457.1:n.1239+11_1239+12delinsAT
NM_001282677.1:c.1239+11_1239+12delinsAT	NP_001269606.1:n.1239+11_1239+12delinsAT
NM_001282678.1:c.615+11_615+12delinsAT	NP_001269607.1:n.615+11_615+12delinsAT
XR_242246.3:n.1335+11_1335+12delinsAT
XM_017012319.2:c.-428+11_-428+12delinsAT	XP_016867808.1:n.-428+11_-428+12delinsAT
XR_001744808.2:n.349+11_349+12delinsAT
XR_242246.5:n.1286+11_1286+12delinsAT
NM_000466.3:c.1239+11_1239+12delinsAT MANE Select	NP_000457.1:n.1239+11_1239+12delinsAT
NM_001282677.2:c.1239+11_1239+12delinsAT	NP_001269606.1:n.1239+11_1239+12delinsAT
NM_001282678.2:c.615+11_615+12delinsAT	NP_001269607.1:n.615+11_615+12delinsAT