Canonical Allele Identifier: CA2578937969

Gene: PEX1

Linked Data

• gnomAD v4: 7-92502940-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502941_92502942del , CM000669.2:g.92502941_92502942del	GRCh38
NC_000007.13:g.92132255_92132256del , CM000669.1:g.92132255_92132256del	GRCh37
NC_000007.12:g.91970191_91970192del	NCBI36
NG_008341.1:g.30590_30591del
NG_008341.2:g.30590_30591del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2226+99_2226+100del MANE Select	ENSP00000248633.4:n.2226+99_2226+100del
ENST00000248633.8:c.2226+99_2226+100del	ENSP00000248633.4:n.2226+99_2226+100del
ENST00000428214.5:c.2055+99_2055+100del	ENSP00000394413.1:n.2055+99_2055+100del
ENST00000438045.5:c.1260+99_1260+100del	ENSP00000410438.1:n.1260+99_1260+100del
ENST00000484913.5:n.2265+99_2265+100del
ENST00000496092.1:n.24+99_24+100del
ENST00000496420.5:n.1902+99_1902+100del
NM_000466.2:c.2226+99_2226+100del	NP_000457.1:n.2226+99_2226+100del
NM_001282677.1:c.2055+99_2055+100del	NP_001269606.1:n.2055+99_2055+100del
NM_001282678.1:c.1602+99_1602+100del	NP_001269607.1:n.1602+99_1602+100del
XM_005250433.3:c.477+99_477+100del	XP_005250490.1:n.477+99_477+100del
XR_242246.3:n.2322+99_2322+100del
XM_017012319.2:c.477+99_477+100del	XP_016867808.1:n.477+99_477+100del
XR_001744808.2:n.1253+99_1253+100del
XR_242246.5:n.2273+99_2273+100del
NM_000466.3:c.2226+99_2226+100del MANE Select	NP_000457.1:n.2226+99_2226+100del
NM_001282677.2:c.2055+99_2055+100del	NP_001269606.1:n.2055+99_2055+100del
NM_001282678.2:c.1602+99_1602+100del	NP_001269607.1:n.1602+99_1602+100del