Canonical Allele Identifier: CA1725933448

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496794_92496795delinsGA , CM000669.2:g.92496794_92496795delinsGA	GRCh38
NC_000007.13:g.92126108_92126109delinsGA , CM000669.1:g.92126108_92126109delinsGA	GRCh37
NC_000007.12:g.91964044_91964045delinsGA	NCBI36
NG_008341.1:g.36737_36738delinsTC
NG_008341.2:g.36737_36738delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2719-18_2719-17delinsTC MANE Select	ENSP00000248633.4:n.2719-18_2719-17delins...
ENST00000248633.8:c.2719-18_2719-17delinsTC	ENSP00000248633.4:n.2719-18_2719-17delins...
ENST00000428214.5:c.2548-18_2548-17delinsTC	ENSP00000394413.1:n.2548-18_2548-17delins...
ENST00000438045.5:c.1753-18_1753-17delinsTC	ENSP00000410438.1:n.1753-18_1753-17delins...
ENST00000484913.5:n.2758-18_2758-17delinsTC
ENST00000496420.5:n.2611-18_2611-17delinsTC
NM_000466.2:c.2719-18_2719-17delinsTC	NP_000457.1:n.2719-18_2719-17delinsTC
NM_001282677.1:c.2548-18_2548-17delinsTC	NP_001269606.1:n.2548-18_2548-17delinsTC
NM_001282678.1:c.2095-18_2095-17delinsTC	NP_001269607.1:n.2095-18_2095-17delinsTC
XM_005250433.3:c.970-18_970-17delinsTC	XP_005250490.1:n.970-18_970-17delinsTC
XR_242246.3:n.2815-18_2815-17delinsTC
XM_017012319.2:c.970-18_970-17delinsTC	XP_016867808.1:n.970-18_970-17delinsTC
XR_001744808.2:n.1746-18_1746-17delinsTC
XR_242246.5:n.2766-18_2766-17delinsTC
NM_000466.3:c.2719-18_2719-17delinsTC MANE Select	NP_000457.1:n.2719-18_2719-17delinsTC
NM_001282677.2:c.2548-18_2548-17delinsTC	NP_001269606.1:n.2548-18_2548-17delinsTC
NM_001282678.2:c.2095-18_2095-17delinsTC	NP_001269607.1:n.2095-18_2095-17delinsTC