Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494265_92494270delinsTTTTGG , CM000669.2:g.92494265_92494270delinsTTTTGG	GRCh38
NC_000007.13:g.92123579_92123584delinsTTTTGG , CM000669.1:g.92123579_92123584delinsTTTTGG	GRCh37
NC_000007.12:g.91961515_91961520delinsTTTTGG	NCBI36
NG_008341.1:g.39262_39267delinsCCAAAA
NG_008341.2:g.39262_39267delinsCCAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3030+23_3030+28delinsCCAAAA (PEX1) MANE Select	ENSP00000248633.4:n.3030+23_3030+28delinsCCAAAA
ENST00000248633.8:c.3030+23_3030+28delinsCCAAAA (PEX1)	ENSP00000248633.4:n.3030+23_3030+28delinsCCAAAA
ENST00000428214.5:c.2859+23_2859+28delinsCCAAAA (PEX1)	ENSP00000394413.1:n.2859+23_2859+28delinsCCAAAA
ENST00000438045.5:c.2064+23_2064+28delinsCCAAAA (PEX1)	ENSP00000410438.1:n.2064+23_2064+28delinsCCAAAA
ENST00000484913.5:n.3069+23_3069+28delinsCCAAAA (PEX1)
ENST00000496420.5:n.2945_2950delinsCCAAAA (PEX1)
NM_000466.2:c.3030+23_3030+28delinsCCAAAA (PEX1)	NP_000457.1:n.3030+23_3030+28delinsCCAAAA
NM_001282677.1:c.2859+23_2859+28delinsCCAAAA (PEX1)	NP_001269606.1:n.2859+23_2859+28delinsCCAAAA
NM_001282678.1:c.2406+23_2406+28delinsCCAAAA (PEX1)	NP_001269607.1:n.2406+23_2406+28delinsCCAAAA
XM_005250433.3:c.1281+23_1281+28delinsCCAAAA (PEX1)	XP_005250490.1:n.1281+23_1281+28delinsCCAAAA
XR_242246.3:n.3126+23_3126+28delinsCCAAAA (PEX1)
XM_017012319.2:c.1281+23_1281+28delinsCCAAAA (PEX1)	XP_016867808.1:n.1281+23_1281+28delinsCCAAAA
XR_001744808.2:n.2057+23_2057+28delinsCCAAAA (PEX1)
XR_001744843.2:n.5234_5239delinsTTTTGG (GATAD1)
XR_242246.5:n.3077+23_3077+28delinsCCAAAA (PEX1)
XR_927494.3:n.4085_4090delinsTTTTGG (GATAD1)
XR_927503.3:n.4016_4021delinsTTTTGG (GATAD1)
NM_000466.3:c.3030+23_3030+28delinsCCAAAA (PEX1) MANE Select	NP_000457.1:n.3030+23_3030+28delinsCCAAAA
NM_001282677.2:c.2859+23_2859+28delinsCCAAAA (PEX1)	NP_001269606.1:n.2859+23_2859+28delinsCCAAAA
NM_001282678.2:c.2406+23_2406+28delinsCCAAAA (PEX1)	NP_001269607.1:n.2406+23_2406+28delinsCCAAAA