Canonical Allele Identifier: CA2776945583

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491575_92491576insAG , CM000669.2:g.92491575_92491576insAG	GRCh38
NC_000007.13:g.92120889_92120890insAG , CM000669.1:g.92120889_92120890insAG	GRCh37
NC_000007.12:g.91958825_91958826insAG	NCBI36
NG_008341.1:g.41956_41957insCT
NG_008341.2:g.41956_41957insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-74_3208-73insCT (PEX1) MANE Select	ENSP00000248633.4:n.3208-74_3208-73insCT
ENST00000248633.8:c.3208-74_3208-73insCT (PEX1)	ENSP00000248633.4:n.3208-74_3208-73insCT
ENST00000428214.5:c.3037-74_3037-73insCT (PEX1)	ENSP00000394413.1:n.3037-74_3037-73insCT
ENST00000438045.5:c.2242-74_2242-73insCT (PEX1)	ENSP00000410438.1:n.2242-74_2242-73insCT
ENST00000484913.5:n.3247-74_3247-73insCT (PEX1)
ENST00000496420.5:n.4263-74_4263-73insCT (PEX1)
NM_000466.2:c.3208-74_3208-73insCT (PEX1)	NP_000457.1:n.3208-74_3208-73insCT
NM_001282677.1:c.3037-74_3037-73insCT (PEX1)	NP_001269606.1:n.3037-74_3037-73insCT
NM_001282678.1:c.2584-74_2584-73insCT (PEX1)	NP_001269607.1:n.2584-74_2584-73insCT
XM_005250433.3:c.1459-74_1459-73insCT (PEX1)	XP_005250490.1:n.1459-74_1459-73insCT
XR_242246.3:n.3304-74_3304-73insCT (PEX1)
XM_017012319.2:c.1459-74_1459-73insCT (PEX1)	XP_016867808.1:n.1459-74_1459-73insCT
XR_001744808.2:n.2235-74_2235-73insCT (PEX1)
XR_001744842.2:n.2613_2614insAG (GATAD1)
XR_001744843.2:n.2544_2545insAG (GATAD1)
XR_002956472.1:n.2670_2671insAG (GATAD1)
XR_002956473.1:n.2701_2702insAG (GATAD1)
XR_002956474.1:n.2618_2619insAG (GATAD1)
XR_242246.5:n.3255-74_3255-73insCT (PEX1)
XR_927494.3:n.1395_1396insAG (GATAD1)
XR_927500.3:n.1392_1393insAG (GATAD1)
XR_927503.3:n.1326_1327insAG (GATAD1)
NM_000466.3:c.3208-74_3208-73insCT (PEX1) MANE Select	NP_000457.1:n.3208-74_3208-73insCT
NM_001282677.2:c.3037-74_3037-73insCT (PEX1)	NP_001269606.1:n.3037-74_3037-73insCT
NM_001282678.2:c.2584-74_2584-73insCT (PEX1)	NP_001269607.1:n.2584-74_2584-73insCT