Canonical Allele Identifier: CA2683717098

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92489916-ATGGTAAATTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489918_92489927del , CM000669.2:g.92489918_92489927del	GRCh38
NC_000007.13:g.92119232_92119241del , CM000669.1:g.92119232_92119241del	GRCh37
NC_000007.12:g.91957168_91957177del	NCBI36
NG_008341.1:g.43606_43615del
NG_008341.2:g.43606_43615del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3439-15_3439-6del (PEX1) MANE Select	ENSP00000248633.4:n.3439-15_3439-6del
ENST00000248633.8:c.3439-15_3439-6del (PEX1)	ENSP00000248633.4:n.3439-15_3439-6del
ENST00000428214.5:c.3268-15_3268-6del (PEX1)	ENSP00000394413.1:n.3268-15_3268-6del
ENST00000438045.5:c.2473-15_2473-6del (PEX1)	ENSP00000410438.1:n.2473-15_2473-6del
ENST00000469417.1:n.321_330del (PEX1)
ENST00000484913.5:n.3478-15_3478-6del (PEX1)
ENST00000496420.5:n.4494-15_4494-6del (PEX1)
NM_000466.2:c.3439-15_3439-6del (PEX1)	NP_000457.1:n.3439-15_3439-6del
NM_001282677.1:c.3268-15_3268-6del (PEX1)	NP_001269606.1:n.3268-15_3268-6del
NM_001282678.1:c.2815-15_2815-6del (PEX1)	NP_001269607.1:n.2815-15_2815-6del
XM_005250433.3:c.1690-15_1690-6del (PEX1)	XP_005250490.1:n.1690-15_1690-6del
XR_242246.3:n.3535-15_3535-6del (PEX1)
XR_927494.1:n.1036-1325_1036-1316del (GATAD1)
XR_927495.1:n.1036-168_1036-159del (GATAD1)
XR_927496.1:n.1041-1325_1041-1316del (GATAD1)
XR_927497.1:n.1036-168_1036-159del (GATAD1)
XR_927498.1:n.1124-1325_1124-1316del (GATAD1)
XR_927500.1:n.1033-1325_1033-1316del (GATAD1)
XR_927502.1:n.1033-168_1033-159del (GATAD1)
XR_927503.1:n.967-1325_967-1316del (GATAD1)
XM_017012319.2:c.1690-15_1690-6del (PEX1)	XP_016867808.1:n.1690-15_1690-6del
XR_001744808.2:n.2466-15_2466-6del (PEX1)
XR_001744842.2:n.2281-1325_2281-1316del (GATAD1)
XR_001744843.2:n.2212-1325_2212-1316del (GATAD1)
XR_002956472.1:n.2281-168_2281-159del (GATAD1)
XR_002956473.1:n.2369-1325_2369-1316del (GATAD1)
XR_002956474.1:n.2286-1325_2286-1316del (GATAD1)
XR_242246.5:n.3486-15_3486-6del (PEX1)
XR_927494.3:n.1063-1325_1063-1316del (GATAD1)
XR_927500.3:n.1060-1325_1060-1316del (GATAD1)
XR_927503.3:n.994-1325_994-1316del (GATAD1)
NM_000466.3:c.3439-15_3439-6del (PEX1) MANE Select	NP_000457.1:n.3439-15_3439-6del
NM_001282677.2:c.3268-15_3268-6del (PEX1)	NP_001269606.1:n.3268-15_3268-6del
NM_001282678.2:c.2815-15_2815-6del (PEX1)	NP_001269607.1:n.2815-15_2815-6del