Canonical Allele Identifier: CA2776945603

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491627_92491628insACA , CM000669.2:g.92491627_92491628insACA	GRCh38
NC_000007.13:g.92120941_92120942insACA , CM000669.1:g.92120941_92120942insACA	GRCh37
NC_000007.12:g.91958877_91958878insACA	NCBI36
NG_008341.1:g.41904_41905insTGT
NG_008341.2:g.41904_41905insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-126_3208-125insTGT (PEX1) MANE Select	ENSP00000248633.4:n.3208-126_3208-125insTGT
ENST00000248633.8:c.3208-126_3208-125insTGT (PEX1)	ENSP00000248633.4:n.3208-126_3208-125insTGT
ENST00000428214.5:c.3037-126_3037-125insTGT (PEX1)	ENSP00000394413.1:n.3037-126_3037-125insTGT
ENST00000438045.5:c.2242-126_2242-125insTGT (PEX1)	ENSP00000410438.1:n.2242-126_2242-125insTGT
ENST00000484913.5:n.3247-126_3247-125insTGT (PEX1)
ENST00000496420.5:n.4263-126_4263-125insTGT (PEX1)
NM_000466.2:c.3208-126_3208-125insTGT (PEX1)	NP_000457.1:n.3208-126_3208-125insTGT
NM_001282677.1:c.3037-126_3037-125insTGT (PEX1)	NP_001269606.1:n.3037-126_3037-125insTGT
NM_001282678.1:c.2584-126_2584-125insTGT (PEX1)	NP_001269607.1:n.2584-126_2584-125insTGT
XM_005250433.3:c.1459-126_1459-125insTGT (PEX1)	XP_005250490.1:n.1459-126_1459-125insTGT
XR_242246.3:n.3304-126_3304-125insTGT (PEX1)
XM_017012319.2:c.1459-126_1459-125insTGT (PEX1)	XP_016867808.1:n.1459-126_1459-125insTGT
XR_001744808.2:n.2235-126_2235-125insTGT (PEX1)
XR_001744842.2:n.2665_2666insACA (GATAD1)
XR_001744843.2:n.2596_2597insACA (GATAD1)
XR_002956472.1:n.2722_2723insACA (GATAD1)
XR_002956473.1:n.2753_2754insACA (GATAD1)
XR_002956474.1:n.2670_2671insACA (GATAD1)
XR_242246.5:n.3255-126_3255-125insTGT (PEX1)
XR_927494.3:n.1447_1448insACA (GATAD1)
XR_927500.3:n.1444_1445insACA (GATAD1)
XR_927503.3:n.1378_1379insACA (GATAD1)
NM_000466.3:c.3208-126_3208-125insTGT (PEX1) MANE Select	NP_000457.1:n.3208-126_3208-125insTGT
NM_001282677.2:c.3037-126_3037-125insTGT (PEX1)	NP_001269606.1:n.3037-126_3037-125insTGT
NM_001282678.2:c.2584-126_2584-125insTGT (PEX1)	NP_001269607.1:n.2584-126_2584-125insTGT