Canonical Allele Identifier: CA1725946721

Gene: PEX1

Linked Data

• dbSNP Id: rs1792426984
• gnomAD v4: 7-92510838-TTTTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510839_92510842del , CM000669.2:g.92510839_92510842del	GRCh38
NC_000007.13:g.92140153_92140156del , CM000669.1:g.92140153_92140156del	GRCh37
NC_000007.12:g.91978089_91978092del	NCBI36
NG_008341.1:g.22690_22693del
NG_008341.2:g.22690_22693del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1587+102_1587+105del MANE Select	ENSP00000248633.4:n.1587+102_1587+105del
ENST00000248633.8:c.1587+102_1587+105del	ENSP00000248633.4:n.1587+102_1587+105del
ENST00000422866.1:c.488+102_488+105del
ENST00000428214.5:c.1587+102_1587+105del	ENSP00000394413.1:n.1587+102_1587+105del
ENST00000438045.5:c.621+102_621+105del	ENSP00000410438.1:n.621+102_621+105del
ENST00000484913.5:n.1626+102_1626+105del
NM_000466.2:c.1587+102_1587+105del	NP_000457.1:n.1587+102_1587+105del
NM_001282677.1:c.1587+102_1587+105del	NP_001269606.1:n.1587+102_1587+105del
NM_001282678.1:c.963+102_963+105del	NP_001269607.1:n.963+102_963+105del
XM_005250433.3:c.-80+102_-80+105del	XP_005250490.1:n.-80+102_-80+105del
XR_242246.3:n.1683+102_1683+105del
XM_017012319.2:c.-80+102_-80+105del	XP_016867808.1:n.-80+102_-80+105del
XR_001744808.2:n.697+102_697+105del
XR_242246.5:n.1634+102_1634+105del
NM_000466.3:c.1587+102_1587+105del MANE Select	NP_000457.1:n.1587+102_1587+105del
NM_001282677.2:c.1587+102_1587+105del	NP_001269606.1:n.1587+102_1587+105del
NM_001282678.2:c.963+102_963+105del	NP_001269607.1:n.963+102_963+105del