Canonical Allele Identifier: CA2683718987

Gene: PEX1

Linked Data

• gnomAD v4: 7-92501949-ACTGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501950_92501953del , CM000669.2:g.92501950_92501953del	GRCh38
NC_000007.13:g.92131264_92131267del , CM000669.1:g.92131264_92131267del	GRCh37
NC_000007.12:g.91969200_91969203del	NCBI36
NG_008341.1:g.31579_31582del
NG_008341.2:g.31579_31582del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2353_2356del MANE Select	ENSP00000248633.4:p.Thr785TyrfsTer22
ENST00000248633.8:c.2353_2356del	ENSP00000248633.4:p.Thr785TyrfsTer22
ENST00000428214.5:c.2182_2185del	ENSP00000394413.1:p.Thr728TyrfsTer22
ENST00000438045.5:c.1387_1390del	ENSP00000410438.1:p.Thr463TyrfsTer22
ENST00000484913.5:n.2392_2395del
ENST00000496092.1:n.151_154del
ENST00000496420.5:n.2029_2032del
NM_000466.2:c.2353_2356del	NP_000457.1:p.Thr785TyrfsTer22
NM_001282677.1:c.2182_2185del	NP_001269606.1:p.Thr728TyrfsTer22
NM_001282678.1:c.1729_1732del	NP_001269607.1:p.Thr577TyrfsTer22
XM_005250433.3:c.604_607del	XP_005250490.1:p.Thr202TyrfsTer22
XR_242246.3:n.2449_2452del
XM_017012319.2:c.604_607del	XP_016867808.1:p.Thr202TyrfsTer22
XR_001744808.2:n.1380_1383del
XR_242246.5:n.2400_2403del
NM_000466.3:c.2353_2356del MANE Select	NP_000457.1:p.Thr785TyrfsTer22
NM_001282677.2:c.2182_2185del	NP_001269606.1:p.Thr728TyrfsTer22
NM_001282678.2:c.1729_1732del	NP_001269607.1:p.Thr577TyrfsTer22