Canonical Allele Identifier: CA1725931827

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494744_92494747delinsCTTT , CM000669.2:g.92494744_92494747delinsCTTT	GRCh38
NC_000007.13:g.92124058_92124061delinsCTTT , CM000669.1:g.92124058_92124061delinsCTTT	GRCh37
NC_000007.12:g.91961994_91961997delinsCTTT	NCBI36
NG_008341.1:g.38785_38788delinsAAAG
NG_008341.2:g.38785_38788delinsAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2784-118_2784-115delinsAAAG MANE Select	ENSP00000248633.4:n.2784-118_2784-115delinsAAAG
ENST00000248633.8:c.2784-118_2784-115delinsAAAG	ENSP00000248633.4:n.2784-118_2784-115delinsAAAG
ENST00000428214.5:c.2613-118_2613-115delinsAAAG	ENSP00000394413.1:n.2613-118_2613-115delinsAAAG
ENST00000438045.5:c.1818-118_1818-115delinsAAAG	ENSP00000410438.1:n.1818-118_1818-115delinsAAAG
ENST00000484913.5:n.2823-118_2823-115delinsAAAG
ENST00000496420.5:n.2676-118_2676-115delinsAAAG
NM_000466.2:c.2784-118_2784-115delinsAAAG	NP_000457.1:n.2784-118_2784-115delinsAAAG
NM_001282677.1:c.2613-118_2613-115delinsAAAG	NP_001269606.1:n.2613-118_2613-115delinsAAAG
NM_001282678.1:c.2160-118_2160-115delinsAAAG	NP_001269607.1:n.2160-118_2160-115delinsAAAG
XM_005250433.3:c.1035-118_1035-115delinsAAAG	XP_005250490.1:n.1035-118_1035-115delinsAAAG
XR_242246.3:n.2880-118_2880-115delinsAAAG
XM_017012319.2:c.1035-118_1035-115delinsAAAG	XP_016867808.1:n.1035-118_1035-115delinsAAAG
XR_001744808.2:n.1811-118_1811-115delinsAAAG
XR_242246.5:n.2831-118_2831-115delinsAAAG
NM_000466.3:c.2784-118_2784-115delinsAAAG MANE Select	NP_000457.1:n.2784-118_2784-115delinsAAAG
NM_001282677.2:c.2613-118_2613-115delinsAAAG	NP_001269606.1:n.2613-118_2613-115delinsAAAG
NM_001282678.2:c.2160-118_2160-115delinsAAAG	NP_001269607.1:n.2160-118_2160-115delinsAAAG