Canonical Allele Identifier: CA2776945868

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92493980_92493993del , CM000669.2:g.92493980_92493993del	GRCh38
NC_000007.13:g.92123294_92123307del , CM000669.1:g.92123294_92123307del	GRCh37
NC_000007.12:g.91961230_91961243del	NCBI36
NG_008341.1:g.39539_39552del
NG_008341.2:g.39539_39552del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3030+300_3030+313del (PEX1) MANE Select	ENSP00000248633.4:n.3030+300_3030+313del
ENST00000248633.8:c.3030+300_3030+313del (PEX1)	ENSP00000248633.4:n.3030+300_3030+313del
ENST00000428214.5:c.2859+300_2859+313del (PEX1)	ENSP00000394413.1:n.2859+300_2859+313del
ENST00000438045.5:c.2064+300_2064+313del (PEX1)	ENSP00000410438.1:n.2064+300_2064+313del
ENST00000484913.5:n.3069+300_3069+313del (PEX1)
ENST00000496420.5:n.3222_3235del (PEX1)
NM_000466.2:c.3030+300_3030+313del (PEX1)	NP_000457.1:n.3030+300_3030+313del
NM_001282677.1:c.2859+300_2859+313del (PEX1)	NP_001269606.1:n.2859+300_2859+313del
NM_001282678.1:c.2406+300_2406+313del (PEX1)	NP_001269607.1:n.2406+300_2406+313del
XM_005250433.3:c.1281+300_1281+313del (PEX1)	XP_005250490.1:n.1281+300_1281+313del
XR_242246.3:n.3126+300_3126+313del (PEX1)
XM_017012319.2:c.1281+300_1281+313del (PEX1)	XP_016867808.1:n.1281+300_1281+313del
XR_001744808.2:n.2057+300_2057+313del (PEX1)
XR_001744843.2:n.4949_4962del (GATAD1)
XR_242246.5:n.3077+300_3077+313del (PEX1)
XR_927494.3:n.3800_3813del (GATAD1)
XR_927503.3:n.3731_3744del (GATAD1)
NM_000466.3:c.3030+300_3030+313del (PEX1) MANE Select	NP_000457.1:n.3030+300_3030+313del
NM_001282677.2:c.2859+300_2859+313del (PEX1)	NP_001269606.1:n.2859+300_2859+313del
NM_001282678.2:c.2406+300_2406+313del (PEX1)	NP_001269607.1:n.2406+300_2406+313del