Canonical Allele Identifier: CA2683718057

Gene: PEX1

Linked Data

• gnomAD v4: 7-92496589-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496591del , CM000669.2:g.92496591del	GRCh38
NC_000007.13:g.92125905del , CM000669.1:g.92125905del	GRCh37
NC_000007.12:g.91963841del	NCBI36
NG_008341.1:g.36942del
NG_008341.2:g.36942del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2783+123del MANE Select	ENSP00000248633.4:n.2783+123del
ENST00000248633.8:c.2783+123del	ENSP00000248633.4:n.2783+123del
ENST00000428214.5:c.2612+123del	ENSP00000394413.1:n.2612+123del
ENST00000438045.5:c.1817+123del	ENSP00000410438.1:n.1817+123del
ENST00000484913.5:n.2822+123del
ENST00000496420.5:n.2675+123del
NM_000466.2:c.2783+123del	NP_000457.1:n.2783+123del
NM_001282677.1:c.2612+123del	NP_001269606.1:n.2612+123del
NM_001282678.1:c.2159+123del	NP_001269607.1:n.2159+123del
XM_005250433.3:c.1034+123del	XP_005250490.1:n.1034+123del
XR_242246.3:n.2879+123del
XM_017012319.2:c.1034+123del	XP_016867808.1:n.1034+123del
XR_001744808.2:n.1810+123del
XR_242246.5:n.2830+123del
NM_000466.3:c.2783+123del MANE Select	NP_000457.1:n.2783+123del
NM_001282677.2:c.2612+123del	NP_001269606.1:n.2612+123del
NM_001282678.2:c.2159+123del	NP_001269607.1:n.2159+123del