Canonical Allele Identifier: CA1725931875

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494787_92494788delinsGT , CM000669.2:g.92494787_92494788delinsGT	GRCh38
NC_000007.13:g.92124101_92124102delinsGT , CM000669.1:g.92124101_92124102delinsGT	GRCh37
NC_000007.12:g.91962037_91962038delinsGT	NCBI36
NG_008341.1:g.38744_38745delinsAC
NG_008341.2:g.38744_38745delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2784-159_2784-158delinsAC MANE Select	ENSP00000248633.4:n.2784-159_2784-158delinsAC
ENST00000248633.8:c.2784-159_2784-158delinsAC	ENSP00000248633.4:n.2784-159_2784-158delinsAC
ENST00000428214.5:c.2613-159_2613-158delinsAC	ENSP00000394413.1:n.2613-159_2613-158delinsAC
ENST00000438045.5:c.1818-159_1818-158delinsAC	ENSP00000410438.1:n.1818-159_1818-158delinsAC
ENST00000484913.5:n.2823-159_2823-158delinsAC
ENST00000496420.5:n.2676-159_2676-158delinsAC
NM_000466.2:c.2784-159_2784-158delinsAC	NP_000457.1:n.2784-159_2784-158delinsAC
NM_001282677.1:c.2613-159_2613-158delinsAC	NP_001269606.1:n.2613-159_2613-158delinsAC
NM_001282678.1:c.2160-159_2160-158delinsAC	NP_001269607.1:n.2160-159_2160-158delinsAC
XM_005250433.3:c.1035-159_1035-158delinsAC	XP_005250490.1:n.1035-159_1035-158delinsAC
XR_242246.3:n.2880-159_2880-158delinsAC
XM_017012319.2:c.1035-159_1035-158delinsAC	XP_016867808.1:n.1035-159_1035-158delinsAC
XR_001744808.2:n.1811-159_1811-158delinsAC
XR_242246.5:n.2831-159_2831-158delinsAC
NM_000466.3:c.2784-159_2784-158delinsAC MANE Select	NP_000457.1:n.2784-159_2784-158delinsAC
NM_001282677.2:c.2613-159_2613-158delinsAC	NP_001269606.1:n.2613-159_2613-158delinsAC
NM_001282678.2:c.2160-159_2160-158delinsAC	NP_001269607.1:n.2160-159_2160-158delinsAC