Canonical Allele Identifier: CA1725930879

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494177_92494181delinsTTTCC , CM000669.2:g.92494177_92494181delinsTTTCC	GRCh38
NC_000007.13:g.92123491_92123495delinsTTTCC , CM000669.1:g.92123491_92123495delinsTTTCC	GRCh37
NC_000007.12:g.91961427_91961431delinsTTTCC	NCBI36
NG_008341.1:g.39351_39355delinsGGAAA
NG_008341.2:g.39351_39355delinsGGAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3030+112_3030+116delinsGGAAA (PEX1) MANE Select	ENSP00000248633.4:n.3030+112_3030+116delinsGGAAA
ENST00000248633.8:c.3030+112_3030+116delinsGGAAA (PEX1)	ENSP00000248633.4:n.3030+112_3030+116delinsGGAAA
ENST00000428214.5:c.2859+112_2859+116delinsGGAAA (PEX1)	ENSP00000394413.1:n.2859+112_2859+116delinsGGAAA
ENST00000438045.5:c.2064+112_2064+116delinsGGAAA (PEX1)	ENSP00000410438.1:n.2064+112_2064+116delinsGGAAA
ENST00000484913.5:n.3069+112_3069+116delinsGGAAA (PEX1)
ENST00000496420.5:n.3034_3038delinsGGAAA (PEX1)
NM_000466.2:c.3030+112_3030+116delinsGGAAA (PEX1)	NP_000457.1:n.3030+112_3030+116delinsGGAAA
NM_001282677.1:c.2859+112_2859+116delinsGGAAA (PEX1)	NP_001269606.1:n.2859+112_2859+116delinsGGAAA
NM_001282678.1:c.2406+112_2406+116delinsGGAAA (PEX1)	NP_001269607.1:n.2406+112_2406+116delinsGGAAA
XM_005250433.3:c.1281+112_1281+116delinsGGAAA (PEX1)	XP_005250490.1:n.1281+112_1281+116delinsGGAAA
XR_242246.3:n.3126+112_3126+116delinsGGAAA (PEX1)
XM_017012319.2:c.1281+112_1281+116delinsGGAAA (PEX1)	XP_016867808.1:n.1281+112_1281+116delinsGGAAA
XR_001744808.2:n.2057+112_2057+116delinsGGAAA (PEX1)
XR_001744843.2:n.5146_5150delinsTTTCC (GATAD1)
XR_242246.5:n.3077+112_3077+116delinsGGAAA (PEX1)
XR_927494.3:n.3997_4001delinsTTTCC (GATAD1)
XR_927503.3:n.3928_3932delinsTTTCC (GATAD1)
NM_000466.3:c.3030+112_3030+116delinsGGAAA (PEX1) MANE Select	NP_000457.1:n.3030+112_3030+116delinsGGAAA
NM_001282677.2:c.2859+112_2859+116delinsGGAAA (PEX1)	NP_001269606.1:n.2859+112_2859+116delinsGGAAA
NM_001282678.2:c.2406+112_2406+116delinsGGAAA (PEX1)	NP_001269607.1:n.2406+112_2406+116delinsGGAAA