Canonical Allele Identifier: CA1725930796

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494051_92494052delinsAT , CM000669.2:g.92494051_92494052delinsAT	GRCh38
NC_000007.13:g.92123365_92123366delinsAT , CM000669.1:g.92123365_92123366delinsAT	GRCh37
NC_000007.12:g.91961301_91961302delinsAT	NCBI36
NG_008341.1:g.39480_39481delinsAT
NG_008341.2:g.39480_39481delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3030+241_3030+242delinsAT (PEX1) MANE Select	ENSP00000248633.4:n.3030+241_3030+242delinsAT
ENST00000248633.8:c.3030+241_3030+242delinsAT (PEX1)	ENSP00000248633.4:n.3030+241_3030+242delinsAT
ENST00000428214.5:c.2859+241_2859+242delinsAT (PEX1)	ENSP00000394413.1:n.2859+241_2859+242delinsAT
ENST00000438045.5:c.2064+241_2064+242delinsAT (PEX1)	ENSP00000410438.1:n.2064+241_2064+242delinsAT
ENST00000484913.5:n.3069+241_3069+242delinsAT (PEX1)
ENST00000496420.5:n.3163_3164delinsAT (PEX1)
NM_000466.2:c.3030+241_3030+242delinsAT (PEX1)	NP_000457.1:n.3030+241_3030+242delinsAT
NM_001282677.1:c.2859+241_2859+242delinsAT (PEX1)	NP_001269606.1:n.2859+241_2859+242delinsAT
NM_001282678.1:c.2406+241_2406+242delinsAT (PEX1)	NP_001269607.1:n.2406+241_2406+242delinsAT
XM_005250433.3:c.1281+241_1281+242delinsAT (PEX1)	XP_005250490.1:n.1281+241_1281+242delinsAT
XR_242246.3:n.3126+241_3126+242delinsAT (PEX1)
XM_017012319.2:c.1281+241_1281+242delinsAT (PEX1)	XP_016867808.1:n.1281+241_1281+242delinsAT
XR_001744808.2:n.2057+241_2057+242delinsAT (PEX1)
XR_001744843.2:n.5020_5021delinsAT (GATAD1)
XR_242246.5:n.3077+241_3077+242delinsAT (PEX1)
XR_927494.3:n.3871_3872delinsAT (GATAD1)
XR_927503.3:n.3802_3803delinsAT (GATAD1)
NM_000466.3:c.3030+241_3030+242delinsAT (PEX1) MANE Select	NP_000457.1:n.3030+241_3030+242delinsAT
NM_001282677.2:c.2859+241_2859+242delinsAT (PEX1)	NP_001269606.1:n.2859+241_2859+242delinsAT
NM_001282678.2:c.2406+241_2406+242delinsAT (PEX1)	NP_001269607.1:n.2406+241_2406+242delinsAT