Canonical Allele Identifier: CA1725933443

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496786_92496787delinsTA , CM000669.2:g.92496786_92496787delinsTA	GRCh38
NC_000007.13:g.92126100_92126101delinsTA , CM000669.1:g.92126100_92126101delinsTA	GRCh37
NC_000007.12:g.91964036_91964037delinsTA	NCBI36
NG_008341.1:g.36745_36746delinsTA
NG_008341.2:g.36745_36746delinsTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2719-10_2719-9delinsTA MANE Select	ENSP00000248633.4:n.2719-10_2719-9delinsT...
ENST00000248633.8:c.2719-10_2719-9delinsTA	ENSP00000248633.4:n.2719-10_2719-9delinsT...
ENST00000428214.5:c.2548-10_2548-9delinsTA	ENSP00000394413.1:n.2548-10_2548-9delinsT...
ENST00000438045.5:c.1753-10_1753-9delinsTA	ENSP00000410438.1:n.1753-10_1753-9delinsT...
ENST00000484913.5:n.2758-10_2758-9delinsTA
ENST00000496420.5:n.2611-10_2611-9delinsTA
NM_000466.2:c.2719-10_2719-9delinsTA	NP_000457.1:n.2719-10_2719-9delinsTA
NM_001282677.1:c.2548-10_2548-9delinsTA	NP_001269606.1:n.2548-10_2548-9delinsTA
NM_001282678.1:c.2095-10_2095-9delinsTA	NP_001269607.1:n.2095-10_2095-9delinsTA
XM_005250433.3:c.970-10_970-9delinsTA	XP_005250490.1:n.970-10_970-9delinsTA
XR_242246.3:n.2815-10_2815-9delinsTA
XM_017012319.2:c.970-10_970-9delinsTA	XP_016867808.1:n.970-10_970-9delinsTA
XR_001744808.2:n.1746-10_1746-9delinsTA
XR_242246.5:n.2766-10_2766-9delinsTA
NM_000466.3:c.2719-10_2719-9delinsTA MANE Select	NP_000457.1:n.2719-10_2719-9delinsTA
NM_001282677.2:c.2548-10_2548-9delinsTA	NP_001269606.1:n.2548-10_2548-9delinsTA
NM_001282678.2:c.2095-10_2095-9delinsTA	NP_001269607.1:n.2095-10_2095-9delinsTA