Canonical Allele Identifier: CA2776945893

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494061_92494062insTTTTTTTTTTTTTTT , CM000669.2:g.92494061_92494062insTTTTTTTTTTTTTTT	GRCh38
NC_000007.13:g.92123375_92123376insTTTTTTTTTTTTTTT , CM000669.1:g.92123375_92123376insTTTTTTTTTTTTTTT	GRCh37
NC_000007.12:g.91961311_91961312insTTTTTTTTTTTTTTT	NCBI36
NG_008341.1:g.39470_39471insAAAAAAAAAAAAAAA
NG_008341.2:g.39470_39471insAAAAAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3030+231_3030+232insAAAAAAAAAAAAAAA (PEX1) MANE Select	ENSP00000248633.4:n.3030+231_3030+232insAAAAAAAAAAAAAAA
ENST00000248633.8:c.3030+231_3030+232insAAAAAAAAAAAAAAA (PEX1)	ENSP00000248633.4:n.3030+231_3030+232insAAAAAAAAAAAAAAA
ENST00000428214.5:c.2859+231_2859+232insAAAAAAAAAAAAAAA (PEX1)	ENSP00000394413.1:n.2859+231_2859+232insAAAAAAAAAAAAAAA
ENST00000438045.5:c.2064+231_2064+232insAAAAAAAAAAAAAAA (PEX1)	ENSP00000410438.1:n.2064+231_2064+232insAAAAAAAAAAAAAAA
ENST00000484913.5:n.3069+231_3069+232insAAAAAAAAAAAAAAA (PEX1)
ENST00000496420.5:n.3153_3154insAAAAAAAAAAAAAAA (PEX1)
NM_000466.2:c.3030+231_3030+232insAAAAAAAAAAAAAAA (PEX1)	NP_000457.1:n.3030+231_3030+232insAAAAAAAAAAAAAAA
NM_001282677.1:c.2859+231_2859+232insAAAAAAAAAAAAAAA (PEX1)	NP_001269606.1:n.2859+231_2859+232insAAAAAAAAAAAAAAA
NM_001282678.1:c.2406+231_2406+232insAAAAAAAAAAAAAAA (PEX1)	NP_001269607.1:n.2406+231_2406+232insAAAAAAAAAAAAAAA
XM_005250433.3:c.1281+231_1281+232insAAAAAAAAAAAAAAA (PEX1)	XP_005250490.1:n.1281+231_1281+232insAAAAAAAAAAAAAAA
XR_242246.3:n.3126+231_3126+232insAAAAAAAAAAAAAAA (PEX1)
XM_017012319.2:c.1281+231_1281+232insAAAAAAAAAAAAAAA (PEX1)	XP_016867808.1:n.1281+231_1281+232insAAAAAAAAAAAAAAA
XR_001744808.2:n.2057+231_2057+232insAAAAAAAAAAAAAAA (PEX1)
XR_001744843.2:n.5030_5031insTTTTTTTTTTTTTTT (GATAD1)
XR_242246.5:n.3077+231_3077+232insAAAAAAAAAAAAAAA (PEX1)
XR_927494.3:n.3881_3882insTTTTTTTTTTTTTTT (GATAD1)
XR_927503.3:n.3812_3813insTTTTTTTTTTTTTTT (GATAD1)
NM_000466.3:c.3030+231_3030+232insAAAAAAAAAAAAAAA (PEX1) MANE Select	NP_000457.1:n.3030+231_3030+232insAAAAAAAAAAAAAAA
NM_001282677.2:c.2859+231_2859+232insAAAAAAAAAAAAAAA (PEX1)	NP_001269606.1:n.2859+231_2859+232insAAAAAAAAAAAAAAA
NM_001282678.2:c.2406+231_2406+232insAAAAAAAAAAAAAAA (PEX1)	NP_001269607.1:n.2406+231_2406+232insAAAAAAAAAAAAAAA