Canonical Allele Identifier: CA2776945470

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489971_92489975del , CM000669.2:g.92489971_92489975del	GRCh38
NC_000007.13:g.92119285_92119289del , CM000669.1:g.92119285_92119289del	GRCh37
NC_000007.12:g.91957221_91957225del	NCBI36
NG_008341.1:g.43557_43561del
NG_008341.2:g.43557_43561del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3439-64_3439-60del (PEX1) MANE Select	ENSP00000248633.4:n.3439-64_3439-60del
ENST00000248633.8:c.3439-64_3439-60del (PEX1)	ENSP00000248633.4:n.3439-64_3439-60del
ENST00000428214.5:c.3268-64_3268-60del (PEX1)	ENSP00000394413.1:n.3268-64_3268-60del
ENST00000438045.5:c.2473-64_2473-60del (PEX1)	ENSP00000410438.1:n.2473-64_2473-60del
ENST00000469417.1:n.272_276del (PEX1)
ENST00000484913.5:n.3478-64_3478-60del (PEX1)
ENST00000496420.5:n.4494-64_4494-60del (PEX1)
NM_000466.2:c.3439-64_3439-60del (PEX1)	NP_000457.1:n.3439-64_3439-60del
NM_001282677.1:c.3268-64_3268-60del (PEX1)	NP_001269606.1:n.3268-64_3268-60del
NM_001282678.1:c.2815-64_2815-60del (PEX1)	NP_001269607.1:n.2815-64_2815-60del
XM_005250433.3:c.1690-64_1690-60del (PEX1)	XP_005250490.1:n.1690-64_1690-60del
XR_242246.3:n.3535-64_3535-60del (PEX1)
XR_927494.1:n.1036-1272_1036-1268del (GATAD1)
XR_927495.1:n.1036-115_1036-111del (GATAD1)
XR_927496.1:n.1041-1272_1041-1268del (GATAD1)
XR_927497.1:n.1036-115_1036-111del (GATAD1)
XR_927498.1:n.1124-1272_1124-1268del (GATAD1)
XR_927500.1:n.1033-1272_1033-1268del (GATAD1)
XR_927502.1:n.1033-115_1033-111del (GATAD1)
XR_927503.1:n.967-1272_967-1268del (GATAD1)
XM_017012319.2:c.1690-64_1690-60del (PEX1)	XP_016867808.1:n.1690-64_1690-60del
XR_001744808.2:n.2466-64_2466-60del (PEX1)
XR_001744842.2:n.2281-1272_2281-1268del (GATAD1)
XR_001744843.2:n.2212-1272_2212-1268del (GATAD1)
XR_002956472.1:n.2281-115_2281-111del (GATAD1)
XR_002956473.1:n.2369-1272_2369-1268del (GATAD1)
XR_002956474.1:n.2286-1272_2286-1268del (GATAD1)
XR_242246.5:n.3486-64_3486-60del (PEX1)
XR_927494.3:n.1063-1272_1063-1268del (GATAD1)
XR_927500.3:n.1060-1272_1060-1268del (GATAD1)
XR_927503.3:n.994-1272_994-1268del (GATAD1)
NM_000466.3:c.3439-64_3439-60del (PEX1) MANE Select	NP_000457.1:n.3439-64_3439-60del
NM_001282677.2:c.3268-64_3268-60del (PEX1)	NP_001269606.1:n.3268-64_3268-60del
NM_001282678.2:c.2815-64_2815-60del (PEX1)	NP_001269607.1:n.2815-64_2815-60del