Canonical Allele Identifier: CA2776945859

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92493979_92493980insTTTTTTTTTTT , CM000669.2:g.92493979_92493980insTTTTTTTTTTT	GRCh38
NC_000007.13:g.92123293_92123294insTTTTTTTTTTT , CM000669.1:g.92123293_92123294insTTTTTTTTTTT	GRCh37
NC_000007.12:g.91961229_91961230insTTTTTTTTTTT	NCBI36
NG_008341.1:g.39562_39563insAAAAAAAAAAA
NG_008341.2:g.39562_39563insAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3030+323_3030+324insAAAAAAAAAAA (PEX1) MANE Select	ENSP00000248633.4:n.3030+323_3030+324insAAAAAAAAAAA
ENST00000248633.8:c.3030+323_3030+324insAAAAAAAAAAA (PEX1)	ENSP00000248633.4:n.3030+323_3030+324insAAAAAAAAAAA
ENST00000428214.5:c.2859+323_2859+324insAAAAAAAAAAA (PEX1)	ENSP00000394413.1:n.2859+323_2859+324insAAAAAAAAAAA
ENST00000438045.5:c.2064+323_2064+324insAAAAAAAAAAA (PEX1)	ENSP00000410438.1:n.2064+323_2064+324insAAAAAAAAAAA
ENST00000484913.5:n.3069+323_3069+324insAAAAAAAAAAA (PEX1)
ENST00000496420.5:n.3245_3246insAAAAAAAAAAA (PEX1)
NM_000466.2:c.3030+323_3030+324insAAAAAAAAAAA (PEX1)	NP_000457.1:n.3030+323_3030+324insAAAAAAAAAAA
NM_001282677.1:c.2859+323_2859+324insAAAAAAAAAAA (PEX1)	NP_001269606.1:n.2859+323_2859+324insAAAAAAAAAAA
NM_001282678.1:c.2406+323_2406+324insAAAAAAAAAAA (PEX1)	NP_001269607.1:n.2406+323_2406+324insAAAAAAAAAAA
XM_005250433.3:c.1281+323_1281+324insAAAAAAAAAAA (PEX1)	XP_005250490.1:n.1281+323_1281+324insAAAAAAAAAAA
XR_242246.3:n.3126+323_3126+324insAAAAAAAAAAA (PEX1)
XM_017012319.2:c.1281+323_1281+324insAAAAAAAAAAA (PEX1)	XP_016867808.1:n.1281+323_1281+324insAAAAAAAAAAA
XR_001744808.2:n.2057+323_2057+324insAAAAAAAAAAA (PEX1)
XR_001744843.2:n.4948_4949insTTTTTTTTTTT (GATAD1)
XR_242246.5:n.3077+323_3077+324insAAAAAAAAAAA (PEX1)
XR_927494.3:n.3799_3800insTTTTTTTTTTT (GATAD1)
XR_927503.3:n.3730_3731insTTTTTTTTTTT (GATAD1)
NM_000466.3:c.3030+323_3030+324insAAAAAAAAAAA (PEX1) MANE Select	NP_000457.1:n.3030+323_3030+324insAAAAAAAAAAA
NM_001282677.2:c.2859+323_2859+324insAAAAAAAAAAA (PEX1)	NP_001269606.1:n.2859+323_2859+324insAAAAAAAAAAA
NM_001282678.2:c.2406+323_2406+324insAAAAAAAAAAA (PEX1)	NP_001269607.1:n.2406+323_2406+324insAAAAAAAAAAA