Canonical Allele Identifier: CA2776946140

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92500023_92500030del , CM000669.2:g.92500023_92500030del	GRCh38
NC_000007.13:g.92129337_92129344del , CM000669.1:g.92129337_92129344del	GRCh37
NC_000007.12:g.91967273_91967280del	NCBI36
NG_008341.1:g.33503_33510del
NG_008341.2:g.33503_33510del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2584-191_2584-184del MANE Select	ENSP00000248633.4:n.2584-191_2584-184del
ENST00000248633.8:c.2584-191_2584-184del	ENSP00000248633.4:n.2584-191_2584-184del
ENST00000428214.5:c.2413-191_2413-184del	ENSP00000394413.1:n.2413-191_2413-184del
ENST00000438045.5:c.1618-191_1618-184del	ENSP00000410438.1:n.1618-191_1618-184del
ENST00000484913.5:n.2623-191_2623-184del
ENST00000496420.5:n.2476-191_2476-184del
NM_000466.2:c.2584-191_2584-184del	NP_000457.1:n.2584-191_2584-184del
NM_001282677.1:c.2413-191_2413-184del	NP_001269606.1:n.2413-191_2413-184del
NM_001282678.1:c.1960-191_1960-184del	NP_001269607.1:n.1960-191_1960-184del
XM_005250433.3:c.835-191_835-184del	XP_005250490.1:n.835-191_835-184del
XR_242246.3:n.2680-191_2680-184del
XM_017012319.2:c.835-191_835-184del	XP_016867808.1:n.835-191_835-184del
XR_001744808.2:n.1611-191_1611-184del
XR_242246.5:n.2631-191_2631-184del
NM_000466.3:c.2584-191_2584-184del MANE Select	NP_000457.1:n.2584-191_2584-184del
NM_001282677.2:c.2413-191_2413-184del	NP_001269606.1:n.2413-191_2413-184del
NM_001282678.2:c.1960-191_1960-184del	NP_001269607.1:n.1960-191_1960-184del