Canonical Allele Identifier: CA2776945481

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489974_92489975insACA , CM000669.2:g.92489974_92489975insACA	GRCh38
NC_000007.13:g.92119288_92119289insACA , CM000669.1:g.92119288_92119289insACA	GRCh37
NC_000007.12:g.91957224_91957225insACA	NCBI36
NG_008341.1:g.43557_43558insTGT
NG_008341.2:g.43557_43558insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3439-64_3439-63insTGT (PEX1) MANE Select	ENSP00000248633.4:n.3439-64_3439-63insTGT
ENST00000248633.8:c.3439-64_3439-63insTGT (PEX1)	ENSP00000248633.4:n.3439-64_3439-63insTGT
ENST00000428214.5:c.3268-64_3268-63insTGT (PEX1)	ENSP00000394413.1:n.3268-64_3268-63insTGT
ENST00000438045.5:c.2473-64_2473-63insTGT (PEX1)	ENSP00000410438.1:n.2473-64_2473-63insTGT
ENST00000469417.1:n.272_273insTGT (PEX1)
ENST00000484913.5:n.3478-64_3478-63insTGT (PEX1)
ENST00000496420.5:n.4494-64_4494-63insTGT (PEX1)
NM_000466.2:c.3439-64_3439-63insTGT (PEX1)	NP_000457.1:n.3439-64_3439-63insTGT
NM_001282677.1:c.3268-64_3268-63insTGT (PEX1)	NP_001269606.1:n.3268-64_3268-63insTGT
NM_001282678.1:c.2815-64_2815-63insTGT (PEX1)	NP_001269607.1:n.2815-64_2815-63insTGT
XM_005250433.3:c.1690-64_1690-63insTGT (PEX1)	XP_005250490.1:n.1690-64_1690-63insTGT
XR_242246.3:n.3535-64_3535-63insTGT (PEX1)
XR_927494.1:n.1036-1269_1036-1268insACA (GATAD1)
XR_927495.1:n.1036-112_1036-111insACA (GATAD1)
XR_927496.1:n.1041-1269_1041-1268insACA (GATAD1)
XR_927497.1:n.1036-112_1036-111insACA (GATAD1)
XR_927498.1:n.1124-1269_1124-1268insACA (GATAD1)
XR_927500.1:n.1033-1269_1033-1268insACA (GATAD1)
XR_927502.1:n.1033-112_1033-111insACA (GATAD1)
XR_927503.1:n.967-1269_967-1268insACA (GATAD1)
XM_017012319.2:c.1690-64_1690-63insTGT (PEX1)	XP_016867808.1:n.1690-64_1690-63insTGT
XR_001744808.2:n.2466-64_2466-63insTGT (PEX1)
XR_001744842.2:n.2281-1269_2281-1268insACA (GATAD1)
XR_001744843.2:n.2212-1269_2212-1268insACA (GATAD1)
XR_002956472.1:n.2281-112_2281-111insACA (GATAD1)
XR_002956473.1:n.2369-1269_2369-1268insACA (GATAD1)
XR_002956474.1:n.2286-1269_2286-1268insACA (GATAD1)
XR_242246.5:n.3486-64_3486-63insTGT (PEX1)
XR_927494.3:n.1063-1269_1063-1268insACA (GATAD1)
XR_927500.3:n.1060-1269_1060-1268insACA (GATAD1)
XR_927503.3:n.994-1269_994-1268insACA (GATAD1)
NM_000466.3:c.3439-64_3439-63insTGT (PEX1) MANE Select	NP_000457.1:n.3439-64_3439-63insTGT
NM_001282677.2:c.3268-64_3268-63insTGT (PEX1)	NP_001269606.1:n.3268-64_3268-63insTGT
NM_001282678.2:c.2815-64_2815-63insTGT (PEX1)	NP_001269607.1:n.2815-64_2815-63insTGT