Canonical Allele Identifier: CA1725930683

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92493937_92493938delinsCT , CM000669.2:g.92493937_92493938delinsCT	GRCh38
NC_000007.13:g.92123251_92123252delinsCT , CM000669.1:g.92123251_92123252delinsCT	GRCh37
NC_000007.12:g.91961187_91961188delinsCT	NCBI36
NG_008341.1:g.39594_39595delinsAG
NG_008341.2:g.39594_39595delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3030+355_3030+356delinsAG (PEX1) MANE Select	ENSP00000248633.4:n.3030+355_3030+356delinsAG
ENST00000248633.8:c.3030+355_3030+356delinsAG (PEX1)	ENSP00000248633.4:n.3030+355_3030+356delinsAG
ENST00000428214.5:c.2859+355_2859+356delinsAG (PEX1)	ENSP00000394413.1:n.2859+355_2859+356delinsAG
ENST00000438045.5:c.2064+355_2064+356delinsAG (PEX1)	ENSP00000410438.1:n.2064+355_2064+356delinsAG
ENST00000484913.5:n.3069+355_3069+356delinsAG (PEX1)
ENST00000496420.5:n.3277_3278delinsAG (PEX1)
NM_000466.2:c.3030+355_3030+356delinsAG (PEX1)	NP_000457.1:n.3030+355_3030+356delinsAG
NM_001282677.1:c.2859+355_2859+356delinsAG (PEX1)	NP_001269606.1:n.2859+355_2859+356delinsAG
NM_001282678.1:c.2406+355_2406+356delinsAG (PEX1)	NP_001269607.1:n.2406+355_2406+356delinsAG
XM_005250433.3:c.1281+355_1281+356delinsAG (PEX1)	XP_005250490.1:n.1281+355_1281+356delinsAG
XR_242246.3:n.3126+355_3126+356delinsAG (PEX1)
XM_017012319.2:c.1281+355_1281+356delinsAG (PEX1)	XP_016867808.1:n.1281+355_1281+356delinsAG
XR_001744808.2:n.2057+355_2057+356delinsAG (PEX1)
XR_001744843.2:n.4906_4907delinsCT (GATAD1)
XR_242246.5:n.3077+355_3077+356delinsAG (PEX1)
XR_927494.3:n.3757_3758delinsCT (GATAD1)
XR_927503.3:n.3688_3689delinsCT (GATAD1)
NM_000466.3:c.3030+355_3030+356delinsAG (PEX1) MANE Select	NP_000457.1:n.3030+355_3030+356delinsAG
NM_001282677.2:c.2859+355_2859+356delinsAG (PEX1)	NP_001269606.1:n.2859+355_2859+356delinsAG
NM_001282678.2:c.2406+355_2406+356delinsAG (PEX1)	NP_001269607.1:n.2406+355_2406+356delinsAG