Canonical Allele Identifier: CA2776945462

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489958_92489959insACAG , CM000669.2:g.92489958_92489959insACAG	GRCh38
NC_000007.13:g.92119272_92119273insACAG , CM000669.1:g.92119272_92119273insACAG	GRCh37
NC_000007.12:g.91957208_91957209insACAG	NCBI36
NG_008341.1:g.43573_43574insCTGT
NG_008341.2:g.43573_43574insCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3439-48_3439-47insCTGT (PEX1) MANE Select	ENSP00000248633.4:n.3439-48_3439-47insCTGT
ENST00000248633.8:c.3439-48_3439-47insCTGT (PEX1)	ENSP00000248633.4:n.3439-48_3439-47insCTGT
ENST00000428214.5:c.3268-48_3268-47insCTGT (PEX1)	ENSP00000394413.1:n.3268-48_3268-47insCTGT
ENST00000438045.5:c.2473-48_2473-47insCTGT (PEX1)	ENSP00000410438.1:n.2473-48_2473-47insCTGT
ENST00000469417.1:n.288_289insCTGT (PEX1)
ENST00000484913.5:n.3478-48_3478-47insCTGT (PEX1)
ENST00000496420.5:n.4494-48_4494-47insCTGT (PEX1)
NM_000466.2:c.3439-48_3439-47insCTGT (PEX1)	NP_000457.1:n.3439-48_3439-47insCTGT
NM_001282677.1:c.3268-48_3268-47insCTGT (PEX1)	NP_001269606.1:n.3268-48_3268-47insCTGT
NM_001282678.1:c.2815-48_2815-47insCTGT (PEX1)	NP_001269607.1:n.2815-48_2815-47insCTGT
XM_005250433.3:c.1690-48_1690-47insCTGT (PEX1)	XP_005250490.1:n.1690-48_1690-47insCTGT
XR_242246.3:n.3535-48_3535-47insCTGT (PEX1)
XR_927494.1:n.1036-1285_1036-1284insACAG (GATAD1)
XR_927495.1:n.1036-128_1036-127insACAG (GATAD1)
XR_927496.1:n.1041-1285_1041-1284insACAG (GATAD1)
XR_927497.1:n.1036-128_1036-127insACAG (GATAD1)
XR_927498.1:n.1124-1285_1124-1284insACAG (GATAD1)
XR_927500.1:n.1033-1285_1033-1284insACAG (GATAD1)
XR_927502.1:n.1033-128_1033-127insACAG (GATAD1)
XR_927503.1:n.967-1285_967-1284insACAG (GATAD1)
XM_017012319.2:c.1690-48_1690-47insCTGT (PEX1)	XP_016867808.1:n.1690-48_1690-47insCTGT
XR_001744808.2:n.2466-48_2466-47insCTGT (PEX1)
XR_001744842.2:n.2281-1285_2281-1284insACAG (GATAD1)
XR_001744843.2:n.2212-1285_2212-1284insACAG (GATAD1)
XR_002956472.1:n.2281-128_2281-127insACAG (GATAD1)
XR_002956473.1:n.2369-1285_2369-1284insACAG (GATAD1)
XR_002956474.1:n.2286-1285_2286-1284insACAG (GATAD1)
XR_242246.5:n.3486-48_3486-47insCTGT (PEX1)
XR_927494.3:n.1063-1285_1063-1284insACAG (GATAD1)
XR_927500.3:n.1060-1285_1060-1284insACAG (GATAD1)
XR_927503.3:n.994-1285_994-1284insACAG (GATAD1)
NM_000466.3:c.3439-48_3439-47insCTGT (PEX1) MANE Select	NP_000457.1:n.3439-48_3439-47insCTGT
NM_001282677.2:c.3268-48_3268-47insCTGT (PEX1)	NP_001269606.1:n.3268-48_3268-47insCTGT
NM_001282678.2:c.2815-48_2815-47insCTGT (PEX1)	NP_001269607.1:n.2815-48_2815-47insCTGT