Canonical Allele Identifier: CA1725933175

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496555_92496563delinsTTTGATGAA , CM000669.2:g.92496555_92496563delinsTTTGATGAA	GRCh38
NC_000007.13:g.92125869_92125877delinsTTTGATGAA , CM000669.1:g.92125869_92125877delinsTTTGATGAA	GRCh37
NC_000007.12:g.91963805_91963813delinsTTTGATGAA	NCBI36
NG_008341.1:g.36969_36977delinsTTCATCAAA
NG_008341.2:g.36969_36977delinsTTCATCAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2783+150_2783+158delinsTTCATCAAA MANE Select	ENSP00000248633.4:n.2783+150_2783+158delinsTTCATCAAA
ENST00000248633.8:c.2783+150_2783+158delinsTTCATCAAA	ENSP00000248633.4:n.2783+150_2783+158delinsTTCATCAAA
ENST00000428214.5:c.2612+150_2612+158delinsTTCATCAAA	ENSP00000394413.1:n.2612+150_2612+158delinsTTCATCAAA
ENST00000438045.5:c.1817+150_1817+158delinsTTCATCAAA	ENSP00000410438.1:n.1817+150_1817+158delinsTTCATCAAA
ENST00000484913.5:n.2822+150_2822+158delinsTTCATCAAA
ENST00000496420.5:n.2675+150_2675+158delinsTTCATCAAA
NM_000466.2:c.2783+150_2783+158delinsTTCATCAAA	NP_000457.1:n.2783+150_2783+158delinsTTCATCAAA
NM_001282677.1:c.2612+150_2612+158delinsTTCATCAAA	NP_001269606.1:n.2612+150_2612+158delinsTTCATCAAA
NM_001282678.1:c.2159+150_2159+158delinsTTCATCAAA	NP_001269607.1:n.2159+150_2159+158delinsTTCATCAAA
XM_005250433.3:c.1034+150_1034+158delinsTTCATCAAA	XP_005250490.1:n.1034+150_1034+158delinsTTCATCAAA
XR_242246.3:n.2879+150_2879+158delinsTTCATCAAA
XM_017012319.2:c.1034+150_1034+158delinsTTCATCAAA	XP_016867808.1:n.1034+150_1034+158delinsTTCATCAAA
XR_001744808.2:n.1810+150_1810+158delinsTTCATCAAA
XR_242246.5:n.2830+150_2830+158delinsTTCATCAAA
NM_000466.3:c.2783+150_2783+158delinsTTCATCAAA MANE Select	NP_000457.1:n.2783+150_2783+158delinsTTCATCAAA
NM_001282677.2:c.2612+150_2612+158delinsTTCATCAAA	NP_001269606.1:n.2612+150_2612+158delinsTTCATCAAA
NM_001282678.2:c.2159+150_2159+158delinsTTCATCAAA	NP_001269607.1:n.2159+150_2159+158delinsTTCATCAAA