Canonical Allele Identifier: CA1725949402

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519090_92519091delinsTA , CM000669.2:g.92519090_92519091delinsTA	GRCh38
NC_000007.13:g.92148404_92148405delinsTA , CM000669.1:g.92148404_92148405delinsTA	GRCh37
NC_000007.12:g.91986340_91986341delinsTA	NCBI36
NG_008341.1:g.14441_14442delinsTA
NG_008341.2:g.14441_14442delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.274-13_274-12delinsTA MANE Select	ENSP00000248633.4:n.274-13_274-12delinsTA
ENST00000248633.8:c.274-13_274-12delinsTA	ENSP00000248633.4:n.274-13_274-12delinsTA
ENST00000428214.5:c.274-13_274-12delinsTA	ENSP00000394413.1:n.274-13_274-12delinsTA
ENST00000438045.5:c.273+3011_273+3012delinsTA	ENSP00000410438.1:n.273+3011_273+3012delinsTA
ENST00000484913.5:n.278-13_278-12delinsTA
NM_000466.2:c.274-13_274-12delinsTA	NP_000457.1:n.274-13_274-12delinsTA
NM_001282677.1:c.274-13_274-12delinsTA	NP_001269606.1:n.274-13_274-12delinsTA
NM_001282678.1:c.-386-13_-386-12delinsTA	NP_001269607.1:n.-386-13_-386-12delinsTA
XR_242246.3:n.370-13_370-12delinsTA
XR_242246.5:n.321-13_321-12delinsTA
NM_000466.3:c.274-13_274-12delinsTA MANE Select	NP_000457.1:n.274-13_274-12delinsTA
NM_001282677.2:c.274-13_274-12delinsTA	NP_001269606.1:n.274-13_274-12delinsTA
NM_001282678.2:c.-386-13_-386-12delinsTA	NP_001269607.1:n.-386-13_-386-12delinsTA