Canonical Allele Identifier: CA2683718415

Gene: PEX1

Linked Data

• gnomAD v4: 7-92502940-TAAGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502944_92502948del , CM000669.2:g.92502944_92502948del	GRCh38
NC_000007.13:g.92132258_92132262del , CM000669.1:g.92132258_92132262del	GRCh37
NC_000007.12:g.91970194_91970198del	NCBI36
NG_008341.1:g.30587_30591del
NG_008341.2:g.30587_30591del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2226+96_2226+100del MANE Select	ENSP00000248633.4:n.2226+96_2226+100del
ENST00000248633.8:c.2226+96_2226+100del	ENSP00000248633.4:n.2226+96_2226+100del
ENST00000428214.5:c.2055+96_2055+100del	ENSP00000394413.1:n.2055+96_2055+100del
ENST00000438045.5:c.1260+96_1260+100del	ENSP00000410438.1:n.1260+96_1260+100del
ENST00000484913.5:n.2265+96_2265+100del
ENST00000496092.1:n.24+96_24+100del
ENST00000496420.5:n.1902+96_1902+100del
NM_000466.2:c.2226+96_2226+100del	NP_000457.1:n.2226+96_2226+100del
NM_001282677.1:c.2055+96_2055+100del	NP_001269606.1:n.2055+96_2055+100del
NM_001282678.1:c.1602+96_1602+100del	NP_001269607.1:n.1602+96_1602+100del
XM_005250433.3:c.477+96_477+100del	XP_005250490.1:n.477+96_477+100del
XR_242246.3:n.2322+96_2322+100del
XM_017012319.2:c.477+96_477+100del	XP_016867808.1:n.477+96_477+100del
XR_001744808.2:n.1253+96_1253+100del
XR_242246.5:n.2273+96_2273+100del
NM_000466.3:c.2226+96_2226+100del MANE Select	NP_000457.1:n.2226+96_2226+100del
NM_001282677.2:c.2055+96_2055+100del	NP_001269606.1:n.2055+96_2055+100del
NM_001282678.2:c.1602+96_1602+100del	NP_001269607.1:n.1602+96_1602+100del