Canonical Allele Identifier: CA2573142456

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1635288
• ClinVar RCV Id: RCV002135163
• dbSNP Id: rs2116133655

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499858_92499861del , CM000669.2:g.92499858_92499861del	GRCh38
NC_000007.13:g.92129172_92129175del , CM000669.1:g.92129172_92129175del	GRCh37
NC_000007.12:g.91967108_91967111del	NCBI36
NG_008341.1:g.33672_33675del
NG_008341.2:g.33672_33675del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2584-22_2584-19del MANE Select	ENSP00000248633.4:n.2584-22_2584-19del
ENST00000248633.8:c.2584-22_2584-19del	ENSP00000248633.4:n.2584-22_2584-19del
ENST00000428214.5:c.2413-22_2413-19del	ENSP00000394413.1:n.2413-22_2413-19del
ENST00000438045.5:c.1618-22_1618-19del	ENSP00000410438.1:n.1618-22_1618-19del
ENST00000484913.5:n.2623-22_2623-19del
ENST00000496420.5:n.2476-22_2476-19del
NM_000466.2:c.2584-22_2584-19del	NP_000457.1:n.2584-22_2584-19del
NM_001282677.1:c.2413-22_2413-19del	NP_001269606.1:n.2413-22_2413-19del
NM_001282678.1:c.1960-22_1960-19del	NP_001269607.1:n.1960-22_1960-19del
XM_005250433.3:c.835-22_835-19del	XP_005250490.1:n.835-22_835-19del
XR_242246.3:n.2680-22_2680-19del
XM_017012319.2:c.835-22_835-19del	XP_016867808.1:n.835-22_835-19del
XR_001744808.2:n.1611-22_1611-19del
XR_242246.5:n.2631-22_2631-19del
NM_000466.3:c.2584-22_2584-19del MANE Select	NP_000457.1:n.2584-22_2584-19del
NM_001282677.2:c.2413-22_2413-19del	NP_001269606.1:n.2413-22_2413-19del
NM_001282678.2:c.1960-22_1960-19del	NP_001269607.1:n.1960-22_1960-19del