Canonical Allele Identifier: CA1725935211

Gene: PEX1

Linked Data

• dbSNP Id: rs1791839876

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499850_92499851insCA , CM000669.2:g.92499850_92499851insCA	GRCh38
NC_000007.13:g.92129164_92129165insCA , CM000669.1:g.92129164_92129165insCA	GRCh37
NC_000007.12:g.91967100_91967101insCA	NCBI36
NG_008341.1:g.33682_33683insGT
NG_008341.2:g.33682_33683insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2584-12_2584-11insGT MANE Select	ENSP00000248633.4:n.2584-12_2584-11insGT
ENST00000248633.8:c.2584-12_2584-11insGT	ENSP00000248633.4:n.2584-12_2584-11insGT
ENST00000428214.5:c.2413-12_2413-11insGT	ENSP00000394413.1:n.2413-12_2413-11insGT
ENST00000438045.5:c.1618-12_1618-11insGT	ENSP00000410438.1:n.1618-12_1618-11insGT
ENST00000484913.5:n.2623-12_2623-11insGT
ENST00000496420.5:n.2476-12_2476-11insGT
NM_000466.2:c.2584-12_2584-11insGT	NP_000457.1:n.2584-12_2584-11insGT
NM_001282677.1:c.2413-12_2413-11insGT	NP_001269606.1:n.2413-12_2413-11insGT
NM_001282678.1:c.1960-12_1960-11insGT	NP_001269607.1:n.1960-12_1960-11insGT
XM_005250433.3:c.835-12_835-11insGT	XP_005250490.1:n.835-12_835-11insGT
XR_242246.3:n.2680-12_2680-11insGT
XM_017012319.2:c.835-12_835-11insGT	XP_016867808.1:n.835-12_835-11insGT
XR_001744808.2:n.1611-12_1611-11insGT
XR_242246.5:n.2631-12_2631-11insGT
NM_000466.3:c.2584-12_2584-11insGT MANE Select	NP_000457.1:n.2584-12_2584-11insGT
NM_001282677.2:c.2413-12_2413-11insGT	NP_001269606.1:n.2413-12_2413-11insGT
NM_001282678.2:c.1960-12_1960-11insGT	NP_001269607.1:n.1960-12_1960-11insGT