Canonical Allele Identifier: CA1725935291

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92500015_92500018delinsACTC , CM000669.2:g.92500015_92500018delinsACTC	GRCh38
NC_000007.13:g.92129329_92129332delinsACTC , CM000669.1:g.92129329_92129332delinsACTC	GRCh37
NC_000007.12:g.91967265_91967268delinsACTC	NCBI36
NG_008341.1:g.33514_33517delinsGAGT
NG_008341.2:g.33514_33517delinsGAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2584-180_2584-177delinsGAGT MANE Select	ENSP00000248633.4:n.2584-180_2584-177delinsGAGT
ENST00000248633.8:c.2584-180_2584-177delinsGAGT	ENSP00000248633.4:n.2584-180_2584-177delinsGAGT
ENST00000428214.5:c.2413-180_2413-177delinsGAGT	ENSP00000394413.1:n.2413-180_2413-177delinsGAGT
ENST00000438045.5:c.1618-180_1618-177delinsGAGT	ENSP00000410438.1:n.1618-180_1618-177delinsGAGT
ENST00000484913.5:n.2623-180_2623-177delinsGAGT
ENST00000496420.5:n.2476-180_2476-177delinsGAGT
NM_000466.2:c.2584-180_2584-177delinsGAGT	NP_000457.1:n.2584-180_2584-177delinsGAGT
NM_001282677.1:c.2413-180_2413-177delinsGAGT	NP_001269606.1:n.2413-180_2413-177delinsGAGT
NM_001282678.1:c.1960-180_1960-177delinsGAGT	NP_001269607.1:n.1960-180_1960-177delinsGAGT
XM_005250433.3:c.835-180_835-177delinsGAGT	XP_005250490.1:n.835-180_835-177delinsGAGT
XR_242246.3:n.2680-180_2680-177delinsGAGT
XM_017012319.2:c.835-180_835-177delinsGAGT	XP_016867808.1:n.835-180_835-177delinsGAGT
XR_001744808.2:n.1611-180_1611-177delinsGAGT
XR_242246.5:n.2631-180_2631-177delinsGAGT
NM_000466.3:c.2584-180_2584-177delinsGAGT MANE Select	NP_000457.1:n.2584-180_2584-177delinsGAGT
NM_001282677.2:c.2413-180_2413-177delinsGAGT	NP_001269606.1:n.2413-180_2413-177delinsGAGT
NM_001282678.2:c.1960-180_1960-177delinsGAGT	NP_001269607.1:n.1960-180_1960-177delinsGAGT