Canonical Allele Identifier: CA2776945845

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92493888_92493889dup , CM000669.2:g.92493888_92493889dup	GRCh38
NC_000007.13:g.92123202_92123203dup , CM000669.1:g.92123202_92123203dup	GRCh37
NC_000007.12:g.91961138_91961139dup	NCBI36
NG_008341.1:g.39646_39647dup
NG_008341.2:g.39646_39647dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3030+407_3030+408dup (PEX1) MANE Select	ENSP00000248633.4:n.3030+407_3030+408dup
ENST00000248633.8:c.3030+407_3030+408dup (PEX1)	ENSP00000248633.4:n.3030+407_3030+408dup
ENST00000428214.5:c.2859+407_2859+408dup (PEX1)	ENSP00000394413.1:n.2859+407_2859+408dup
ENST00000438045.5:c.2064+407_2064+408dup (PEX1)	ENSP00000410438.1:n.2064+407_2064+408dup
ENST00000484913.5:n.3069+407_3069+408dup (PEX1)
ENST00000496420.5:n.3329_3330dup (PEX1)
NM_000466.2:c.3030+407_3030+408dup (PEX1)	NP_000457.1:n.3030+407_3030+408dup
NM_001282677.1:c.2859+407_2859+408dup (PEX1)	NP_001269606.1:n.2859+407_2859+408dup
NM_001282678.1:c.2406+407_2406+408dup (PEX1)	NP_001269607.1:n.2406+407_2406+408dup
XM_005250433.3:c.1281+407_1281+408dup (PEX1)	XP_005250490.1:n.1281+407_1281+408dup
XR_242246.3:n.3126+407_3126+408dup (PEX1)
XM_017012319.2:c.1281+407_1281+408dup (PEX1)	XP_016867808.1:n.1281+407_1281+408dup
XR_001744808.2:n.2057+407_2057+408dup (PEX1)
XR_001744843.2:n.4857_4858dup (GATAD1)
XR_242246.5:n.3077+407_3077+408dup (PEX1)
XR_927494.3:n.3708_3709dup (GATAD1)
XR_927503.3:n.3639_3640dup (GATAD1)
NM_000466.3:c.3030+407_3030+408dup (PEX1) MANE Select	NP_000457.1:n.3030+407_3030+408dup
NM_001282677.2:c.2859+407_2859+408dup (PEX1)	NP_001269606.1:n.2859+407_2859+408dup
NM_001282678.2:c.2406+407_2406+408dup (PEX1)	NP_001269607.1:n.2406+407_2406+408dup