Canonical Allele Identifier: CA1725935281

Gene: PEX1

Linked Data

• dbSNP Id: rs1791849379
• gnomAD v4: 7-92499990-AATTCCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499992_92499997del , CM000669.2:g.92499992_92499997del	GRCh38
NC_000007.13:g.92129306_92129311del , CM000669.1:g.92129306_92129311del	GRCh37
NC_000007.12:g.91967242_91967247del	NCBI36
NG_008341.1:g.33536_33541del
NG_008341.2:g.33536_33541del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2584-158_2584-153del MANE Select	ENSP00000248633.4:n.2584-158_2584-153del
ENST00000248633.8:c.2584-158_2584-153del	ENSP00000248633.4:n.2584-158_2584-153del
ENST00000428214.5:c.2413-158_2413-153del	ENSP00000394413.1:n.2413-158_2413-153del
ENST00000438045.5:c.1618-158_1618-153del	ENSP00000410438.1:n.1618-158_1618-153del
ENST00000484913.5:n.2623-158_2623-153del
ENST00000496420.5:n.2476-158_2476-153del
NM_000466.2:c.2584-158_2584-153del	NP_000457.1:n.2584-158_2584-153del
NM_001282677.1:c.2413-158_2413-153del	NP_001269606.1:n.2413-158_2413-153del
NM_001282678.1:c.1960-158_1960-153del	NP_001269607.1:n.1960-158_1960-153del
XM_005250433.3:c.835-158_835-153del	XP_005250490.1:n.835-158_835-153del
XR_242246.3:n.2680-158_2680-153del
XM_017012319.2:c.835-158_835-153del	XP_016867808.1:n.835-158_835-153del
XR_001744808.2:n.1611-158_1611-153del
XR_242246.5:n.2631-158_2631-153del
NM_000466.3:c.2584-158_2584-153del MANE Select	NP_000457.1:n.2584-158_2584-153del
NM_001282677.2:c.2413-158_2413-153del	NP_001269606.1:n.2413-158_2413-153del
NM_001282678.2:c.1960-158_1960-153del	NP_001269607.1:n.1960-158_1960-153del