Canonical Allele Identifier: CA2683719076

Gene: PEX1

Linked Data

• gnomAD v4: 7-92506122-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506125del , CM000669.2:g.92506125del	GRCh38
NC_000007.13:g.92135439del , CM000669.1:g.92135439del	GRCh37
NC_000007.12:g.91973375del	NCBI36
NG_008341.1:g.27409del
NG_008341.2:g.27409del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1900+125del MANE Select	ENSP00000248633.4:n.1900+125del
ENST00000248633.8:c.1900+125del	ENSP00000248633.4:n.1900+125del
ENST00000422866.1:c.718+125del
ENST00000428214.5:c.1900+125del	ENSP00000394413.1:n.1900+125del
ENST00000438045.5:c.934+125del	ENSP00000410438.1:n.934+125del
ENST00000484913.5:n.1939+125del
ENST00000496420.5:n.1576+125del
NM_000466.2:c.1900+125del	NP_000457.1:n.1900+125del
NM_001282677.1:c.1900+125del	NP_001269606.1:n.1900+125del
NM_001282678.1:c.1276+125del	NP_001269607.1:n.1276+125del
XM_005250433.3:c.151+125del	XP_005250490.1:n.151+125del
XR_242246.3:n.1996+125del
XM_017012319.2:c.151+125del	XP_016867808.1:n.151+125del
XR_001744808.2:n.927+125del
XR_242246.5:n.1947+125del
NM_000466.3:c.1900+125del MANE Select	NP_000457.1:n.1900+125del
NM_001282677.2:c.1900+125del	NP_001269606.1:n.1900+125del
NM_001282678.2:c.1276+125del	NP_001269607.1:n.1276+125del