Canonical Allele Identifier: CA1725931871

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494782_92494783delinsTG , CM000669.2:g.92494782_92494783delinsTG	GRCh38
NC_000007.13:g.92124096_92124097delinsTG , CM000669.1:g.92124096_92124097delinsTG	GRCh37
NC_000007.12:g.91962032_91962033delinsTG	NCBI36
NG_008341.1:g.38749_38750delinsCA
NG_008341.2:g.38749_38750delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2784-154_2784-153delinsCA MANE Select	ENSP00000248633.4:n.2784-154_2784-153delinsCA
ENST00000248633.8:c.2784-154_2784-153delinsCA	ENSP00000248633.4:n.2784-154_2784-153delinsCA
ENST00000428214.5:c.2613-154_2613-153delinsCA	ENSP00000394413.1:n.2613-154_2613-153delinsCA
ENST00000438045.5:c.1818-154_1818-153delinsCA	ENSP00000410438.1:n.1818-154_1818-153delinsCA
ENST00000484913.5:n.2823-154_2823-153delinsCA
ENST00000496420.5:n.2676-154_2676-153delinsCA
NM_000466.2:c.2784-154_2784-153delinsCA	NP_000457.1:n.2784-154_2784-153delinsCA
NM_001282677.1:c.2613-154_2613-153delinsCA	NP_001269606.1:n.2613-154_2613-153delinsCA
NM_001282678.1:c.2160-154_2160-153delinsCA	NP_001269607.1:n.2160-154_2160-153delinsCA
XM_005250433.3:c.1035-154_1035-153delinsCA	XP_005250490.1:n.1035-154_1035-153delinsCA
XR_242246.3:n.2880-154_2880-153delinsCA
XM_017012319.2:c.1035-154_1035-153delinsCA	XP_016867808.1:n.1035-154_1035-153delinsCA
XR_001744808.2:n.1811-154_1811-153delinsCA
XR_242246.5:n.2831-154_2831-153delinsCA
NM_000466.3:c.2784-154_2784-153delinsCA MANE Select	NP_000457.1:n.2784-154_2784-153delinsCA
NM_001282677.2:c.2613-154_2613-153delinsCA	NP_001269606.1:n.2613-154_2613-153delinsCA
NM_001282678.2:c.2160-154_2160-153delinsCA	NP_001269607.1:n.2160-154_2160-153delinsCA