Canonical Allele Identifier: CA2776946126

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499995_92499996del , CM000669.2:g.92499995_92499996del	GRCh38
NC_000007.13:g.92129309_92129310del , CM000669.1:g.92129309_92129310del	GRCh37
NC_000007.12:g.91967245_91967246del	NCBI36
NG_008341.1:g.33536_33537del
NG_008341.2:g.33536_33537del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2584-158_2584-157del MANE Select	ENSP00000248633.4:n.2584-158_2584-157del
ENST00000248633.8:c.2584-158_2584-157del	ENSP00000248633.4:n.2584-158_2584-157del
ENST00000428214.5:c.2413-158_2413-157del	ENSP00000394413.1:n.2413-158_2413-157del
ENST00000438045.5:c.1618-158_1618-157del	ENSP00000410438.1:n.1618-158_1618-157del
ENST00000484913.5:n.2623-158_2623-157del
ENST00000496420.5:n.2476-158_2476-157del
NM_000466.2:c.2584-158_2584-157del	NP_000457.1:n.2584-158_2584-157del
NM_001282677.1:c.2413-158_2413-157del	NP_001269606.1:n.2413-158_2413-157del
NM_001282678.1:c.1960-158_1960-157del	NP_001269607.1:n.1960-158_1960-157del
XM_005250433.3:c.835-158_835-157del	XP_005250490.1:n.835-158_835-157del
XR_242246.3:n.2680-158_2680-157del
XM_017012319.2:c.835-158_835-157del	XP_016867808.1:n.835-158_835-157del
XR_001744808.2:n.1611-158_1611-157del
XR_242246.5:n.2631-158_2631-157del
NM_000466.3:c.2584-158_2584-157del MANE Select	NP_000457.1:n.2584-158_2584-157del
NM_001282677.2:c.2413-158_2413-157del	NP_001269606.1:n.2413-158_2413-157del
NM_001282678.2:c.1960-158_1960-157del	NP_001269607.1:n.1960-158_1960-157del