Canonical Allele Identifier: CA2683719139

Gene: PEX1

Linked Data

• gnomAD v4: 7-92506218-GATT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506219_92506221del , CM000669.2:g.92506219_92506221del	GRCh38
NC_000007.13:g.92135533_92135535del , CM000669.1:g.92135533_92135535del	GRCh37
NC_000007.12:g.91973469_91973471del	NCBI36
NG_008341.1:g.27311_27313del
NG_008341.2:g.27311_27313del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1900+27_1900+29del MANE Select	ENSP00000248633.4:n.1900+27_1900+29del
ENST00000248633.8:c.1900+27_1900+29del	ENSP00000248633.4:n.1900+27_1900+29del
ENST00000422866.1:c.718+27_718+29del
ENST00000428214.5:c.1900+27_1900+29del	ENSP00000394413.1:n.1900+27_1900+29del
ENST00000438045.5:c.934+27_934+29del	ENSP00000410438.1:n.934+27_934+29del
ENST00000484913.5:n.1939+27_1939+29del
ENST00000496420.5:n.1576+27_1576+29del
NM_000466.2:c.1900+27_1900+29del	NP_000457.1:n.1900+27_1900+29del
NM_001282677.1:c.1900+27_1900+29del	NP_001269606.1:n.1900+27_1900+29del
NM_001282678.1:c.1276+27_1276+29del	NP_001269607.1:n.1276+27_1276+29del
XM_005250433.3:c.151+27_151+29del	XP_005250490.1:n.151+27_151+29del
XR_242246.3:n.1996+27_1996+29del
XM_017012319.2:c.151+27_151+29del	XP_016867808.1:n.151+27_151+29del
XR_001744808.2:n.927+27_927+29del
XR_242246.5:n.1947+27_1947+29del
NM_000466.3:c.1900+27_1900+29del MANE Select	NP_000457.1:n.1900+27_1900+29del
NM_001282677.2:c.1900+27_1900+29del	NP_001269606.1:n.1900+27_1900+29del
NM_001282678.2:c.1276+27_1276+29del	NP_001269607.1:n.1276+27_1276+29del