Canonical Allele Identifier: CA1725938640

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504698_92504703delinsAACAAG , CM000669.2:g.92504698_92504703delinsAACAAG	GRCh38
NC_000007.13:g.92134012_92134017delinsAACAAG , CM000669.1:g.92134012_92134017delinsAACAAG	GRCh37
NC_000007.12:g.91971948_91971953delinsAACAAG	NCBI36
NG_008341.1:g.28829_28834delinsCTTGTT
NG_008341.2:g.28829_28834delinsCTTGTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2071+29_2071+34delinsCTTGTT MANE Select	ENSP00000248633.4:n.2071+29_2071+34delins...
ENST00000248633.8:c.2071+29_2071+34delinsCTTGTT	ENSP00000248633.4:n.2071+29_2071+34delins...
ENST00000428214.5:c.1901-1508_1901-1503delinsCTTGTT	ENSP00000394413.1:n.1901-1508_1901-1503de...
ENST00000438045.5:c.1105+29_1105+34delinsCTTGTT	ENSP00000410438.1:n.1105+29_1105+34delins...
ENST00000484913.5:n.2110+29_2110+34delinsCTTGTT
ENST00000496420.5:n.1747+29_1747+34delinsCTTGTT
NM_000466.2:c.2071+29_2071+34delinsCTTGTT	NP_000457.1:n.2071+29_2071+34delinsCTTGTT...
NM_001282677.1:c.1901-1508_1901-1503delinsCTTGTT	NP_001269606.1:n.1901-1508_1901-1503delin...
NM_001282678.1:c.1447+29_1447+34delinsCTTGTT	NP_001269607.1:n.1447+29_1447+34delinsCTT...
XM_005250433.3:c.322+29_322+34delinsCTTGTT	XP_005250490.1:n.322+29_322+34delinsCTTGT...
XR_242246.3:n.2167+29_2167+34delinsCTTGTT
XM_017012319.2:c.322+29_322+34delinsCTTGTT	XP_016867808.1:n.322+29_322+34delinsCTTGT...
XR_001744808.2:n.1098+29_1098+34delinsCTTGTT
XR_242246.5:n.2118+29_2118+34delinsCTTGTT
NM_000466.3:c.2071+29_2071+34delinsCTTGTT MANE Select	NP_000457.1:n.2071+29_2071+34delinsCTTGTT...
NM_001282677.2:c.1901-1508_1901-1503delinsCTTGTT	NP_001269606.1:n.1901-1508_1901-1503delin...
NM_001282678.2:c.1447+29_1447+34delinsCTTGTT	NP_001269607.1:n.1447+29_1447+34delinsCTT...