Canonical Allele Identifier: CA2776947666
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92522305_92522306insACA , CM000669.2:g.92522305_92522306insACA GRCh38
NC_000007.13:g.92151619_92151620insACA , CM000669.1:g.92151619_92151620insACA GRCh37
NC_000007.12:g.91989555_91989556insACA NCBI36
NG_008341.1:g.11226_11227insTGT
NG_008341.2:g.11226_11227insTGT

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.130-61_130-60insTGT MANE Select ENSP00000248633.4:n.130-61_130-60insTGT
ENST00000248633.8:c.130-61_130-60insTGT ENSP00000248633.4:n.130-61_130-60insTGT
ENST00000428214.5:c.130-61_130-60insTGT ENSP00000394413.1:n.130-61_130-60insTGT
ENST00000438045.5:c.130-61_130-60insTGT ENSP00000410438.1:n.130-61_130-60insTGT
ENST00000484913.5:n.134-61_134-60insTGT
NM_000466.2:c.130-61_130-60insTGT NP_000457.1:n.130-61_130-60insTGT
NM_001282677.1:c.130-61_130-60insTGT NP_001269606.1:n.130-61_130-60insTGT
NM_001282678.1:c.-530-61_-530-60insTGT NP_001269607.1:n.-530-61_-530-60insTGT
XR_242246.3:n.226-61_226-60insTGT
XR_242246.5:n.177-61_177-60insTGT
NM_000466.3:c.130-61_130-60insTGT MANE Select NP_000457.1:n.130-61_130-60insTGT
NM_001282677.2:c.130-61_130-60insTGT NP_001269606.1:n.130-61_130-60insTGT
NM_001282678.2:c.-530-61_-530-60insTGT NP_001269607.1:n.-530-61_-530-60insTGT