Canonical Allele Identifier: CA2776945857

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92493976_92493979dup , CM000669.2:g.92493976_92493979dup GRCh38
NC_000007.13:g.92123290_92123293dup , CM000669.1:g.92123290_92123293dup GRCh37
NC_000007.12:g.91961226_91961229dup NCBI36
NG_008341.1:g.39559_39562dup
NG_008341.2:g.39559_39562dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.3030+320_3030+323dup (PEX1) MANE Select ENSP00000248633.4:n.3030+320_3030+323dup
ENST00000248633.8:c.3030+320_3030+323dup (PEX1) ENSP00000248633.4:n.3030+320_3030+323dup
ENST00000428214.5:c.2859+320_2859+323dup (PEX1) ENSP00000394413.1:n.2859+320_2859+323dup
ENST00000438045.5:c.2064+320_2064+323dup (PEX1) ENSP00000410438.1:n.2064+320_2064+323dup
ENST00000484913.5:n.3069+320_3069+323dup (PEX1)
ENST00000496420.5:n.3242_3245dup (PEX1)
NM_000466.2:c.3030+320_3030+323dup (PEX1) NP_000457.1:n.3030+320_3030+323dup
NM_001282677.1:c.2859+320_2859+323dup (PEX1) NP_001269606.1:n.2859+320_2859+323dup
NM_001282678.1:c.2406+320_2406+323dup (PEX1) NP_001269607.1:n.2406+320_2406+323dup
XM_005250433.3:c.1281+320_1281+323dup (PEX1) XP_005250490.1:n.1281+320_1281+323dup
XR_242246.3:n.3126+320_3126+323dup (PEX1)
XM_017012319.2:c.1281+320_1281+323dup (PEX1) XP_016867808.1:n.1281+320_1281+323dup
XR_001744808.2:n.2057+320_2057+323dup (PEX1)
XR_001744843.2:n.4945_4948dup (GATAD1)
XR_242246.5:n.3077+320_3077+323dup (PEX1)
XR_927494.3:n.3796_3799dup (GATAD1)
XR_927503.3:n.3727_3730dup (GATAD1)
NM_000466.3:c.3030+320_3030+323dup (PEX1) MANE Select NP_000457.1:n.3030+320_3030+323dup
NM_001282677.2:c.2859+320_2859+323dup (PEX1) NP_001269606.1:n.2859+320_2859+323dup
NM_001282678.2:c.2406+320_2406+323dup (PEX1) NP_001269607.1:n.2406+320_2406+323dup