Canonical Allele Identifier: CA2683717160

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92491592-C-CAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491594_92491596dup , CM000669.2:g.92491594_92491596dup	GRCh38
NC_000007.13:g.92120908_92120910dup , CM000669.1:g.92120908_92120910dup	GRCh37
NC_000007.12:g.91958844_91958846dup	NCBI36
NG_008341.1:g.41937_41939dup
NG_008341.2:g.41937_41939dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-93_3208-91dup (PEX1) MANE Select	ENSP00000248633.4:n.3208-93_3208-91dup
ENST00000248633.8:c.3208-93_3208-91dup (PEX1)	ENSP00000248633.4:n.3208-93_3208-91dup
ENST00000428214.5:c.3037-93_3037-91dup (PEX1)	ENSP00000394413.1:n.3037-93_3037-91dup
ENST00000438045.5:c.2242-93_2242-91dup (PEX1)	ENSP00000410438.1:n.2242-93_2242-91dup
ENST00000484913.5:n.3247-93_3247-91dup (PEX1)
ENST00000496420.5:n.4263-93_4263-91dup (PEX1)
NM_000466.2:c.3208-93_3208-91dup (PEX1)	NP_000457.1:n.3208-93_3208-91dup
NM_001282677.1:c.3037-93_3037-91dup (PEX1)	NP_001269606.1:n.3037-93_3037-91dup
NM_001282678.1:c.2584-93_2584-91dup (PEX1)	NP_001269607.1:n.2584-93_2584-91dup
XM_005250433.3:c.1459-93_1459-91dup (PEX1)	XP_005250490.1:n.1459-93_1459-91dup
XR_242246.3:n.3304-93_3304-91dup (PEX1)
XM_017012319.2:c.1459-93_1459-91dup (PEX1)	XP_016867808.1:n.1459-93_1459-91dup
XR_001744808.2:n.2235-93_2235-91dup (PEX1)
XR_001744842.2:n.2632_2634dup (GATAD1)
XR_001744843.2:n.2563_2565dup (GATAD1)
XR_002956472.1:n.2689_2691dup (GATAD1)
XR_002956473.1:n.2720_2722dup (GATAD1)
XR_002956474.1:n.2637_2639dup (GATAD1)
XR_242246.5:n.3255-93_3255-91dup (PEX1)
XR_927494.3:n.1414_1416dup (GATAD1)
XR_927500.3:n.1411_1413dup (GATAD1)
XR_927503.3:n.1345_1347dup (GATAD1)
NM_000466.3:c.3208-93_3208-91dup (PEX1) MANE Select	NP_000457.1:n.3208-93_3208-91dup
NM_001282677.2:c.3037-93_3037-91dup (PEX1)	NP_001269606.1:n.3037-93_3037-91dup
NM_001282678.2:c.2584-93_2584-91dup (PEX1)	NP_001269607.1:n.2584-93_2584-91dup