Canonical Allele Identifier: CA16041158
Gene: PEX1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92504876_92504877delinsG , CM000669.2:g.92504876_92504877delinsG GRCh38
NC_000007.13:g.92134190_92134191delinsG , CM000669.1:g.92134190_92134191delinsG GRCh37
NC_000007.12:g.91972126_91972127delinsG NCBI36
NG_008341.1:g.28655_28656delinsC
NG_008341.2:g.28655_28656delinsC

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.1926_1927delinsC MANE Select ENSP00000248633.4:p.Lys642AsnfsTer3
ENST00000248633.8:c.1926_1927delinsC ENSP00000248633.4:p.Lys642AsnfsTer3
ENST00000428214.5:c.1900+1371_1900+1372delinsC ENSP00000394413.1:n.1900+1371_1900+1372delinsC
ENST00000438045.5:c.960_961delinsC ENSP00000410438.1:p.Lys320AsnfsTer3
ENST00000484913.5:n.1965_1966delinsC
ENST00000496420.5:n.1602_1603delinsC
NM_000466.2:c.1926_1927delinsC NP_000457.1:p.Lys642AsnfsTer3
NM_001282677.1:c.1900+1371_1900+1372delinsC NP_001269606.1:n.1900+1371_1900+1372delinsC
NM_001282678.1:c.1302_1303delinsC NP_001269607.1:p.Lys434AsnfsTer3
XM_005250433.3:c.177_178delinsC XP_005250490.1:p.Lys59AsnfsTer3
XR_242246.3:n.2022_2023delinsC
XM_017012319.2:c.177_178delinsC XP_016867808.1:p.Lys59AsnfsTer3
XR_001744808.2:n.953_954delinsC
XR_242246.5:n.1973_1974delinsC
NM_000466.3:c.1926_1927delinsC MANE Select NP_000457.1:p.Lys642AsnfsTer3
NM_001282677.2:c.1900+1371_1900+1372delinsC NP_001269606.1:n.1900+1371_1900+1372delinsC
NM_001282678.2:c.1302_1303delinsC NP_001269607.1:p.Lys434AsnfsTer3
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