Canonical Allele Identifier: CA1725947096

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517162_92517164delinsCTG , CM000669.2:g.92517162_92517164delinsCTG	GRCh38
NC_000007.13:g.92146476_92146478delinsCTG , CM000669.1:g.92146476_92146478delinsCTG	GRCh37
NC_000007.12:g.91984412_91984414delinsCTG	NCBI36
NG_008341.1:g.16368_16370delinsCAG
NG_008341.2:g.16368_16370delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1239+112_1239+114delinsCAG MANE Select	ENSP00000248633.4:n.1239+112_1239+114delinsCAG
ENST00000248633.8:c.1239+112_1239+114delinsCAG	ENSP00000248633.4:n.1239+112_1239+114delinsCAG
ENST00000422866.1:c.140+112_140+114delinsCAG
ENST00000428214.5:c.1239+112_1239+114delinsCAG	ENSP00000394413.1:n.1239+112_1239+114delinsCAG
ENST00000438045.5:c.274-3197_274-3195delinsCAG	ENSP00000410438.1:n.274-3197_274-3195delinsCAG
ENST00000484913.5:n.1278+112_1278+114delinsCAG
NM_000466.2:c.1239+112_1239+114delinsCAG	NP_000457.1:n.1239+112_1239+114delinsCAG
NM_001282677.1:c.1239+112_1239+114delinsCAG	NP_001269606.1:n.1239+112_1239+114delinsCAG
NM_001282678.1:c.615+112_615+114delinsCAG	NP_001269607.1:n.615+112_615+114delinsCAG
XR_242246.3:n.1335+112_1335+114delinsCAG
XM_017012319.2:c.-428+112_-428+114delinsCAG	XP_016867808.1:n.-428+112_-428+114delinsCAG
XR_001744808.2:n.349+112_349+114delinsCAG
XR_242246.5:n.1286+112_1286+114delinsCAG
NM_000466.3:c.1239+112_1239+114delinsCAG MANE Select	NP_000457.1:n.1239+112_1239+114delinsCAG
NM_001282677.2:c.1239+112_1239+114delinsCAG	NP_001269606.1:n.1239+112_1239+114delinsCAG
NM_001282678.2:c.615+112_615+114delinsCAG	NP_001269607.1:n.615+112_615+114delinsCAG