Canonical Allele Identifier: CA1725933488

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496837_92496841delinsTCTGA , CM000669.2:g.92496837_92496841delinsTCTGA	GRCh38
NC_000007.13:g.92126151_92126155delinsTCTGA , CM000669.1:g.92126151_92126155delinsTCTGA	GRCh37
NC_000007.12:g.91964087_91964091delinsTCTGA	NCBI36
NG_008341.1:g.36691_36695delinsTCAGA
NG_008341.2:g.36691_36695delinsTCAGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2719-64_2719-60delinsTCAGA MANE Select	ENSP00000248633.4:n.2719-64_2719-60delins...
ENST00000248633.8:c.2719-64_2719-60delinsTCAGA	ENSP00000248633.4:n.2719-64_2719-60delins...
ENST00000428214.5:c.2548-64_2548-60delinsTCAGA	ENSP00000394413.1:n.2548-64_2548-60delins...
ENST00000438045.5:c.1753-64_1753-60delinsTCAGA	ENSP00000410438.1:n.1753-64_1753-60delins...
ENST00000484913.5:n.2758-64_2758-60delinsTCAGA
ENST00000496420.5:n.2611-64_2611-60delinsTCAGA
NM_000466.2:c.2719-64_2719-60delinsTCAGA	NP_000457.1:n.2719-64_2719-60delinsTCAGA
NM_001282677.1:c.2548-64_2548-60delinsTCAGA	NP_001269606.1:n.2548-64_2548-60delinsTCA...
NM_001282678.1:c.2095-64_2095-60delinsTCAGA	NP_001269607.1:n.2095-64_2095-60delinsTCA...
XM_005250433.3:c.970-64_970-60delinsTCAGA	XP_005250490.1:n.970-64_970-60delinsTCAGA...
XR_242246.3:n.2815-64_2815-60delinsTCAGA
XM_017012319.2:c.970-64_970-60delinsTCAGA	XP_016867808.1:n.970-64_970-60delinsTCAGA...
XR_001744808.2:n.1746-64_1746-60delinsTCAGA
XR_242246.5:n.2766-64_2766-60delinsTCAGA
NM_000466.3:c.2719-64_2719-60delinsTCAGA MANE Select	NP_000457.1:n.2719-64_2719-60delinsTCAGA
NM_001282677.2:c.2548-64_2548-60delinsTCAGA	NP_001269606.1:n.2548-64_2548-60delinsTCA...
NM_001282678.2:c.2095-64_2095-60delinsTCAGA	NP_001269607.1:n.2095-64_2095-60delinsTCA...