Canonical Allele Identifier: CA2776945612

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491648_92491649insA , CM000669.2:g.92491648_92491649insA	GRCh38
NC_000007.13:g.92120962_92120963insA , CM000669.1:g.92120962_92120963insA	GRCh37
NC_000007.12:g.91958898_91958899insA	NCBI36
NG_008341.1:g.41883_41884insT
NG_008341.2:g.41883_41884insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-147_3208-146insT (PEX1) MANE Select	ENSP00000248633.4:n.3208-147_3208-146insT
ENST00000248633.8:c.3208-147_3208-146insT (PEX1)	ENSP00000248633.4:n.3208-147_3208-146insT
ENST00000428214.5:c.3037-147_3037-146insT (PEX1)	ENSP00000394413.1:n.3037-147_3037-146insT
ENST00000438045.5:c.2242-147_2242-146insT (PEX1)	ENSP00000410438.1:n.2242-147_2242-146insT
ENST00000484913.5:n.3247-147_3247-146insT (PEX1)
ENST00000496420.5:n.4263-147_4263-146insT (PEX1)
NM_000466.2:c.3208-147_3208-146insT (PEX1)	NP_000457.1:n.3208-147_3208-146insT
NM_001282677.1:c.3037-147_3037-146insT (PEX1)	NP_001269606.1:n.3037-147_3037-146insT
NM_001282678.1:c.2584-147_2584-146insT (PEX1)	NP_001269607.1:n.2584-147_2584-146insT
XM_005250433.3:c.1459-147_1459-146insT (PEX1)	XP_005250490.1:n.1459-147_1459-146insT
XR_242246.3:n.3304-147_3304-146insT (PEX1)
XM_017012319.2:c.1459-147_1459-146insT (PEX1)	XP_016867808.1:n.1459-147_1459-146insT
XR_001744808.2:n.2235-147_2235-146insT (PEX1)
XR_001744842.2:n.2686_2687insA (GATAD1)
XR_001744843.2:n.2617_2618insA (GATAD1)
XR_002956472.1:n.2743_2744insA (GATAD1)
XR_002956473.1:n.2774_2775insA (GATAD1)
XR_002956474.1:n.2691_2692insA (GATAD1)
XR_242246.5:n.3255-147_3255-146insT (PEX1)
XR_927494.3:n.1468_1469insA (GATAD1)
XR_927500.3:n.1465_1466insA (GATAD1)
XR_927503.3:n.1399_1400insA (GATAD1)
NM_000466.3:c.3208-147_3208-146insT (PEX1) MANE Select	NP_000457.1:n.3208-147_3208-146insT
NM_001282677.2:c.3037-147_3037-146insT (PEX1)	NP_001269606.1:n.3037-147_3037-146insT
NM_001282678.2:c.2584-147_2584-146insT (PEX1)	NP_001269607.1:n.2584-147_2584-146insT