Canonical Allele Identifier: CA1725928765

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491679_92491680delinsAT , CM000669.2:g.92491679_92491680delinsAT	GRCh38
NC_000007.13:g.92120993_92120994delinsAT , CM000669.1:g.92120993_92120994delinsAT	GRCh37
NC_000007.12:g.91958929_91958930delinsAT	NCBI36
NG_008341.1:g.41852_41853delinsAT
NG_008341.2:g.41852_41853delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-178_3208-177delinsAT (PEX1) MANE Select	ENSP00000248633.4:n.3208-178_3208-177delinsAT
ENST00000248633.8:c.3208-178_3208-177delinsAT (PEX1)	ENSP00000248633.4:n.3208-178_3208-177delinsAT
ENST00000428214.5:c.3037-178_3037-177delinsAT (PEX1)	ENSP00000394413.1:n.3037-178_3037-177delinsAT
ENST00000438045.5:c.2242-178_2242-177delinsAT (PEX1)	ENSP00000410438.1:n.2242-178_2242-177delinsAT
ENST00000484913.5:n.3247-178_3247-177delinsAT (PEX1)
ENST00000496420.5:n.4263-178_4263-177delinsAT (PEX1)
NM_000466.2:c.3208-178_3208-177delinsAT (PEX1)	NP_000457.1:n.3208-178_3208-177delinsAT
NM_001282677.1:c.3037-178_3037-177delinsAT (PEX1)	NP_001269606.1:n.3037-178_3037-177delinsAT
NM_001282678.1:c.2584-178_2584-177delinsAT (PEX1)	NP_001269607.1:n.2584-178_2584-177delinsAT
XM_005250433.3:c.1459-178_1459-177delinsAT (PEX1)	XP_005250490.1:n.1459-178_1459-177delinsAT
XR_242246.3:n.3304-178_3304-177delinsAT (PEX1)
XM_017012319.2:c.1459-178_1459-177delinsAT (PEX1)	XP_016867808.1:n.1459-178_1459-177delinsAT
XR_001744808.2:n.2235-178_2235-177delinsAT (PEX1)
XR_001744842.2:n.2717_2718delinsAT (GATAD1)
XR_001744843.2:n.2648_2649delinsAT (GATAD1)
XR_002956472.1:n.2774_2775delinsAT (GATAD1)
XR_002956473.1:n.2805_2806delinsAT (GATAD1)
XR_002956474.1:n.2722_2723delinsAT (GATAD1)
XR_242246.5:n.3255-178_3255-177delinsAT (PEX1)
XR_927494.3:n.1499_1500delinsAT (GATAD1)
XR_927500.3:n.1496_1497delinsAT (GATAD1)
XR_927503.3:n.1430_1431delinsAT (GATAD1)
NM_000466.3:c.3208-178_3208-177delinsAT (PEX1) MANE Select	NP_000457.1:n.3208-178_3208-177delinsAT
NM_001282677.2:c.3037-178_3037-177delinsAT (PEX1)	NP_001269606.1:n.3037-178_3037-177delinsAT
NM_001282678.2:c.2584-178_2584-177delinsAT (PEX1)	NP_001269607.1:n.2584-178_2584-177delinsAT