Linked Data
ClinVar Variation Id:
188981
dbSNP Id:
rs769836601
ExAC:
7:92118677 GTGAC / G
gnomAD v2:
7-92118677-GTGAC-G
gnomAD v3:
7-92489363-GTGAC-G
gnomAD v4:
7-92489363-GTGAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92489369_92489372del , CM000669.2:g.92489369_92489372del | GRCh38 |
| NC_000007.13:g.92118683_92118686del , CM000669.1:g.92118683_92118686del | GRCh37 |
| NC_000007.12:g.91956619_91956622del | NCBI36 |
| NG_008341.1:g.44165_44168del | |
| NG_008341.2:g.44165_44168del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.3693_3696del (PEX1) MANE Select | ENSP00000248633.4:p.Gln1231HisfsTer3 | |
| ENST00000248633.8:c.3693_3696del (PEX1) | ENSP00000248633.4:p.Gln1231HisfsTer3 | |
| ENST00000428214.5:c.3522_3525del (PEX1) | ENSP00000394413.1:p.Gln1174HisfsTer3 | |
| ENST00000438045.5:c.2727_2730del (PEX1) | ENSP00000410438.1:p.Gln909HisfsTer3 | |
| ENST00000477342.1:n.428_431del (PEX1) | ||
| ENST00000484913.5:n.3732_3735del (PEX1) | ||
| ENST00000496420.5:n.4743_4746del (PEX1) | ||
| NM_000466.2:c.3693_3696del (PEX1) | NP_000457.1:p.Gln1231HisfsTer3 | |
| NM_001282677.1:c.3522_3525del (PEX1) | NP_001269606.1:p.Gln1174HisfsTer3 | |
| NM_001282678.1:c.3069_3072del (PEX1) | NP_001269607.1:p.Gln1023HisfsTer3 | |
| XM_005250433.3:c.1944_1947del (PEX1) | XP_005250490.1:p.Gln648HisfsTer3 | |
| XR_242246.3:n.3784_3787del (PEX1) | ||
| XR_927494.1:n.1036-1874_1036-1871del (GATAD1) | ||
| XR_927495.1:n.1036-717_1036-714del (GATAD1) | ||
| XR_927496.1:n.1041-1874_1041-1871del (GATAD1) | ||
| XR_927497.1:n.1036-717_1036-714del (GATAD1) | ||
| XR_927498.1:n.1124-1874_1124-1871del (GATAD1) | ||
| XR_927500.1:n.1033-1874_1033-1871del (GATAD1) | ||
| XR_927502.1:n.1033-717_1033-714del (GATAD1) | ||
| XR_927503.1:n.967-1874_967-1871del (GATAD1) | ||
| XM_017012319.2:c.1944_1947del (PEX1) | XP_016867808.1:p.Gln648HisfsTer3 | |
| XR_001744808.2:n.2715_2718del (PEX1) | ||
| XR_001744842.2:n.2281-1874_2281-1871del (GATAD1) | ||
| XR_001744843.2:n.2212-1874_2212-1871del (GATAD1) | ||
| XR_002956472.1:n.2281-717_2281-714del (GATAD1) | ||
| XR_002956473.1:n.2369-1874_2369-1871del (GATAD1) | ||
| XR_002956474.1:n.2286-1874_2286-1871del (GATAD1) | ||
| XR_242246.5:n.3735_3738del (PEX1) | ||
| XR_927494.3:n.1063-1874_1063-1871del (GATAD1) | ||
| XR_927500.3:n.1060-1874_1060-1871del (GATAD1) | ||
| XR_927503.3:n.994-1874_994-1871del (GATAD1) | ||
| NM_000466.3:c.3693_3696del (PEX1) MANE Select | NP_000457.1:p.Gln1231HisfsTer3 | |
| NM_001282677.2:c.3522_3525del (PEX1) | NP_001269606.1:p.Gln1174HisfsTer3 | |
| NM_001282678.2:c.3069_3072del (PEX1) | NP_001269607.1:p.Gln1023HisfsTer3 |