Canonical Allele Identifier: CA2683719519

Gene: PEX1

Linked Data

• gnomAD v4: 7-92506886-AAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506888_92506889del , CM000669.2:g.92506888_92506889del	GRCh38
NC_000007.13:g.92136202_92136203del , CM000669.1:g.92136202_92136203del	GRCh37
NC_000007.12:g.91974138_91974139del	NCBI36
NG_008341.1:g.26644_26645del
NG_008341.2:g.26644_26645del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1803+106_1803+107del MANE Select	ENSP00000248633.4:n.1803+106_1803+107del
ENST00000248633.8:c.1803+106_1803+107del	ENSP00000248633.4:n.1803+106_1803+107del
ENST00000422866.1:c.621+106_621+107del
ENST00000428214.5:c.1803+106_1803+107del	ENSP00000394413.1:n.1803+106_1803+107del
ENST00000438045.5:c.837+106_837+107del	ENSP00000410438.1:n.837+106_837+107del
ENST00000484913.5:n.1842+106_1842+107del
ENST00000496420.5:n.936_937del
NM_000466.2:c.1803+106_1803+107del	NP_000457.1:n.1803+106_1803+107del
NM_001282677.1:c.1803+106_1803+107del	NP_001269606.1:n.1803+106_1803+107del
NM_001282678.1:c.1179+106_1179+107del	NP_001269607.1:n.1179+106_1179+107del
XM_005250433.3:c.54+106_54+107del	XP_005250490.1:n.54+106_54+107del
XR_242246.3:n.1899+106_1899+107del
XM_017012319.2:c.54+106_54+107del	XP_016867808.1:n.54+106_54+107del
XR_001744808.2:n.830+106_830+107del
XR_242246.5:n.1850+106_1850+107del
NM_000466.3:c.1803+106_1803+107del MANE Select	NP_000457.1:n.1803+106_1803+107del
NM_001282677.2:c.1803+106_1803+107del	NP_001269606.1:n.1803+106_1803+107del
NM_001282678.2:c.1179+106_1179+107del	NP_001269607.1:n.1179+106_1179+107del