Canonical Allele Identifier: CA2683718076

Gene: PEX1

Linked Data

• gnomAD v4: 7-92496635-AAAAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496638_92496641del , CM000669.2:g.92496638_92496641del	GRCh38
NC_000007.13:g.92125952_92125955del , CM000669.1:g.92125952_92125955del	GRCh37
NC_000007.12:g.91963888_91963891del	NCBI36
NG_008341.1:g.36893_36896del
NG_008341.2:g.36893_36896del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2783+74_2783+77del MANE Select	ENSP00000248633.4:n.2783+74_2783+77del
ENST00000248633.8:c.2783+74_2783+77del	ENSP00000248633.4:n.2783+74_2783+77del
ENST00000428214.5:c.2612+74_2612+77del	ENSP00000394413.1:n.2612+74_2612+77del
ENST00000438045.5:c.1817+74_1817+77del	ENSP00000410438.1:n.1817+74_1817+77del
ENST00000484913.5:n.2822+74_2822+77del
ENST00000496420.5:n.2675+74_2675+77del
NM_000466.2:c.2783+74_2783+77del	NP_000457.1:n.2783+74_2783+77del
NM_001282677.1:c.2612+74_2612+77del	NP_001269606.1:n.2612+74_2612+77del
NM_001282678.1:c.2159+74_2159+77del	NP_001269607.1:n.2159+74_2159+77del
XM_005250433.3:c.1034+74_1034+77del	XP_005250490.1:n.1034+74_1034+77del
XR_242246.3:n.2879+74_2879+77del
XM_017012319.2:c.1034+74_1034+77del	XP_016867808.1:n.1034+74_1034+77del
XR_001744808.2:n.1810+74_1810+77del
XR_242246.5:n.2830+74_2830+77del
NM_000466.3:c.2783+74_2783+77del MANE Select	NP_000457.1:n.2783+74_2783+77del
NM_001282677.2:c.2612+74_2612+77del	NP_001269606.1:n.2612+74_2612+77del
NM_001282678.2:c.2159+74_2159+77del	NP_001269607.1:n.2159+74_2159+77del