Canonical Allele Identifier: CA1725933208
Gene: PEX1 HGNC NCBI

Linked Data

dbSNP Id: rs1791664164
gnomAD v4: 7-92496590-TTAA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92496595_92496597del , CM000669.2:g.92496595_92496597del GRCh38
NC_000007.13:g.92125909_92125911del , CM000669.1:g.92125909_92125911del GRCh37
NC_000007.12:g.91963845_91963847del NCBI36
NG_008341.1:g.36939_36941del
NG_008341.2:g.36939_36941del

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2783+120_2783+122del MANE Select ENSP00000248633.4:n.2783+120_2783+122del
ENST00000248633.8:c.2783+120_2783+122del ENSP00000248633.4:n.2783+120_2783+122del
ENST00000428214.5:c.2612+120_2612+122del ENSP00000394413.1:n.2612+120_2612+122del
ENST00000438045.5:c.1817+120_1817+122del ENSP00000410438.1:n.1817+120_1817+122del
ENST00000484913.5:n.2822+120_2822+122del
ENST00000496420.5:n.2675+120_2675+122del
NM_000466.2:c.2783+120_2783+122del NP_000457.1:n.2783+120_2783+122del
NM_001282677.1:c.2612+120_2612+122del NP_001269606.1:n.2612+120_2612+122del
NM_001282678.1:c.2159+120_2159+122del NP_001269607.1:n.2159+120_2159+122del
XM_005250433.3:c.1034+120_1034+122del XP_005250490.1:n.1034+120_1034+122del
XR_242246.3:n.2879+120_2879+122del
XM_017012319.2:c.1034+120_1034+122del XP_016867808.1:n.1034+120_1034+122del
XR_001744808.2:n.1810+120_1810+122del
XR_242246.5:n.2830+120_2830+122del
NM_000466.3:c.2783+120_2783+122del MANE Select NP_000457.1:n.2783+120_2783+122del
NM_001282677.2:c.2612+120_2612+122del NP_001269606.1:n.2612+120_2612+122del
NM_001282678.2:c.2159+120_2159+122del NP_001269607.1:n.2159+120_2159+122del
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