Canonical Allele Identifier: CA2683718944

Gene: PEX1

Linked Data

• gnomAD v4: 7-92501934-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501935del , CM000669.2:g.92501935del	GRCh38
NC_000007.13:g.92131249del , CM000669.1:g.92131249del	GRCh37
NC_000007.12:g.91969185del	NCBI36
NG_008341.1:g.31597del
NG_008341.2:g.31597del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2371del MANE Select	ENSP00000248633.4:p.Ala791ProfsTer17
ENST00000248633.8:c.2371del	ENSP00000248633.4:p.Ala791ProfsTer17
ENST00000428214.5:c.2200del	ENSP00000394413.1:p.Ala734ProfsTer17
ENST00000438045.5:c.1405del	ENSP00000410438.1:p.Ala469ProfsTer17
ENST00000484913.5:n.2410del
ENST00000496092.1:n.169del
ENST00000496420.5:n.2047del
NM_000466.2:c.2371del	NP_000457.1:p.Ala791ProfsTer17
NM_001282677.1:c.2200del	NP_001269606.1:p.Ala734ProfsTer17
NM_001282678.1:c.1747del	NP_001269607.1:p.Ala583ProfsTer17
XM_005250433.3:c.622del	XP_005250490.1:p.Ala208ProfsTer17
XR_242246.3:n.2467del
XM_017012319.2:c.622del	XP_016867808.1:p.Ala208ProfsTer17
XR_001744808.2:n.1398del
XR_242246.5:n.2418del
NM_000466.3:c.2371del MANE Select	NP_000457.1:p.Ala791ProfsTer17
NM_001282677.2:c.2200del	NP_001269606.1:p.Ala734ProfsTer17
NM_001282678.2:c.1747del	NP_001269607.1:p.Ala583ProfsTer17