Canonical Allele Identifier: CA1725931927

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494841_92494851delinsTAATCTTTACA , CM000669.2:g.92494841_92494851delinsTAATCTTTACA	GRCh38
NC_000007.13:g.92124155_92124165delinsTAATCTTTACA , CM000669.1:g.92124155_92124165delinsTAATCTTTACA	GRCh37
NC_000007.12:g.91962091_91962101delinsTAATCTTTACA	NCBI36
NG_008341.1:g.38681_38691delinsTGTAAAGATTA
NG_008341.2:g.38681_38691delinsTGTAAAGATTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2784-222_2784-212delinsTGTAAAGATTA MANE Select	ENSP00000248633.4:n.2784-222_2784-212delinsTGTAAAGATTA
ENST00000248633.8:c.2784-222_2784-212delinsTGTAAAGATTA	ENSP00000248633.4:n.2784-222_2784-212delinsTGTAAAGATTA
ENST00000428214.5:c.2613-222_2613-212delinsTGTAAAGATTA	ENSP00000394413.1:n.2613-222_2613-212delinsTGTAAAGATTA
ENST00000438045.5:c.1818-222_1818-212delinsTGTAAAGATTA	ENSP00000410438.1:n.1818-222_1818-212delinsTGTAAAGATTA
ENST00000484913.5:n.2823-222_2823-212delinsTGTAAAGATTA
ENST00000496420.5:n.2676-222_2676-212delinsTGTAAAGATTA
NM_000466.2:c.2784-222_2784-212delinsTGTAAAGATTA	NP_000457.1:n.2784-222_2784-212delinsTGTAAAGATTA
NM_001282677.1:c.2613-222_2613-212delinsTGTAAAGATTA	NP_001269606.1:n.2613-222_2613-212delinsTGTAAAGATTA
NM_001282678.1:c.2160-222_2160-212delinsTGTAAAGATTA	NP_001269607.1:n.2160-222_2160-212delinsTGTAAAGATTA
XM_005250433.3:c.1035-222_1035-212delinsTGTAAAGATTA	XP_005250490.1:n.1035-222_1035-212delinsTGTAAAGATTA
XR_242246.3:n.2880-222_2880-212delinsTGTAAAGATTA
XM_017012319.2:c.1035-222_1035-212delinsTGTAAAGATTA	XP_016867808.1:n.1035-222_1035-212delinsTGTAAAGATTA
XR_001744808.2:n.1811-222_1811-212delinsTGTAAAGATTA
XR_242246.5:n.2831-222_2831-212delinsTGTAAAGATTA
NM_000466.3:c.2784-222_2784-212delinsTGTAAAGATTA MANE Select	NP_000457.1:n.2784-222_2784-212delinsTGTAAAGATTA
NM_001282677.2:c.2613-222_2613-212delinsTGTAAAGATTA	NP_001269606.1:n.2613-222_2613-212delinsTGTAAAGATTA
NM_001282678.2:c.2160-222_2160-212delinsTGTAAAGATTA	NP_001269607.1:n.2160-222_2160-212delinsTGTAAAGATTA