Canonical Allele Identifier: CA2776946489

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504967_92504968insACC , CM000669.2:g.92504967_92504968insACC	GRCh38
NC_000007.13:g.92134281_92134282insACC , CM000669.1:g.92134281_92134282insACC	GRCh37
NC_000007.12:g.91972217_91972218insACC	NCBI36
NG_008341.1:g.28564_28565insGGT
NG_008341.2:g.28564_28565insGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1901-66_1901-65insGGT MANE Select	ENSP00000248633.4:n.1901-66_1901-65insGGT
ENST00000248633.8:c.1901-66_1901-65insGGT	ENSP00000248633.4:n.1901-66_1901-65insGGT
ENST00000422866.1:c.719-66_719-65insGGT
ENST00000428214.5:c.1900+1280_1900+1281insGGT	ENSP00000394413.1:n.1900+1280_1900+1281insGGT
ENST00000438045.5:c.935-66_935-65insGGT	ENSP00000410438.1:n.935-66_935-65insGGT
ENST00000484913.5:n.1940-66_1940-65insGGT
ENST00000496420.5:n.1577-66_1577-65insGGT
NM_000466.2:c.1901-66_1901-65insGGT	NP_000457.1:n.1901-66_1901-65insGGT
NM_001282677.1:c.1900+1280_1900+1281insGGT	NP_001269606.1:n.1900+1280_1900+1281insGGT
NM_001282678.1:c.1277-66_1277-65insGGT	NP_001269607.1:n.1277-66_1277-65insGGT
XM_005250433.3:c.152-66_152-65insGGT	XP_005250490.1:n.152-66_152-65insGGT
XR_242246.3:n.1997-66_1997-65insGGT
XM_017012319.2:c.152-66_152-65insGGT	XP_016867808.1:n.152-66_152-65insGGT
XR_001744808.2:n.928-66_928-65insGGT
XR_242246.5:n.1948-66_1948-65insGGT
NM_000466.3:c.1901-66_1901-65insGGT MANE Select	NP_000457.1:n.1901-66_1901-65insGGT
NM_001282677.2:c.1900+1280_1900+1281insGGT	NP_001269606.1:n.1900+1280_1900+1281insGGT
NM_001282678.2:c.1277-66_1277-65insGGT	NP_001269607.1:n.1277-66_1277-65insGGT