Canonical Allele Identifier: CA2776945668

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496881_92496889del , CM000669.2:g.92496881_92496889del	GRCh38
NC_000007.13:g.92126195_92126203del , CM000669.1:g.92126195_92126203del	GRCh37
NC_000007.12:g.91964131_91964139del	NCBI36
NG_008341.1:g.36643_36651del
NG_008341.2:g.36643_36651del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2719-112_2719-104del MANE Select	ENSP00000248633.4:n.2719-112_2719-104del
ENST00000248633.8:c.2719-112_2719-104del	ENSP00000248633.4:n.2719-112_2719-104del
ENST00000428214.5:c.2548-112_2548-104del	ENSP00000394413.1:n.2548-112_2548-104del
ENST00000438045.5:c.1753-112_1753-104del	ENSP00000410438.1:n.1753-112_1753-104del
ENST00000484913.5:n.2758-112_2758-104del
ENST00000496420.5:n.2611-112_2611-104del
NM_000466.2:c.2719-112_2719-104del	NP_000457.1:n.2719-112_2719-104del
NM_001282677.1:c.2548-112_2548-104del	NP_001269606.1:n.2548-112_2548-104del
NM_001282678.1:c.2095-112_2095-104del	NP_001269607.1:n.2095-112_2095-104del
XM_005250433.3:c.970-112_970-104del	XP_005250490.1:n.970-112_970-104del
XR_242246.3:n.2815-112_2815-104del
XM_017012319.2:c.970-112_970-104del	XP_016867808.1:n.970-112_970-104del
XR_001744808.2:n.1746-112_1746-104del
XR_242246.5:n.2766-112_2766-104del
NM_000466.3:c.2719-112_2719-104del MANE Select	NP_000457.1:n.2719-112_2719-104del
NM_001282677.2:c.2548-112_2548-104del	NP_001269606.1:n.2548-112_2548-104del
NM_001282678.2:c.2095-112_2095-104del	NP_001269607.1:n.2095-112_2095-104del