Linked Data
dbSNP Id:
rs1369309176
gnomAD v2:
7-92123223-AATT-A
gnomAD v3:
7-92493909-AATT-A
gnomAD v4:
7-92493909-AATT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92493912_92493914del , CM000669.2:g.92493912_92493914del | GRCh38 |
| NC_000007.13:g.92123226_92123228del , CM000669.1:g.92123226_92123228del | GRCh37 |
| NC_000007.12:g.91961162_91961164del | NCBI36 |
| NG_008341.1:g.39620_39622del | |
| NG_008341.2:g.39620_39622del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.3030+381_3030+383del (PEX1) MANE Select | ENSP00000248633.4:n.3030+381_3030+383del | |
| ENST00000248633.8:c.3030+381_3030+383del (PEX1) | ENSP00000248633.4:n.3030+381_3030+383del | |
| ENST00000428214.5:c.2859+381_2859+383del (PEX1) | ENSP00000394413.1:n.2859+381_2859+383del | |
| ENST00000438045.5:c.2064+381_2064+383del (PEX1) | ENSP00000410438.1:n.2064+381_2064+383del | |
| ENST00000484913.5:n.3069+381_3069+383del (PEX1) | ||
| ENST00000496420.5:n.3303_3305del (PEX1) | ||
| NM_000466.2:c.3030+381_3030+383del (PEX1) | NP_000457.1:n.3030+381_3030+383del | |
| NM_001282677.1:c.2859+381_2859+383del (PEX1) | NP_001269606.1:n.2859+381_2859+383del | |
| NM_001282678.1:c.2406+381_2406+383del (PEX1) | NP_001269607.1:n.2406+381_2406+383del | |
| XM_005250433.3:c.1281+381_1281+383del (PEX1) | XP_005250490.1:n.1281+381_1281+383del | |
| XR_242246.3:n.3126+381_3126+383del (PEX1) | ||
| XM_017012319.2:c.1281+381_1281+383del (PEX1) | XP_016867808.1:n.1281+381_1281+383del | |
| XR_001744808.2:n.2057+381_2057+383del (PEX1) | ||
| XR_001744843.2:n.4881_4883del (GATAD1) | ||
| XR_242246.5:n.3077+381_3077+383del (PEX1) | ||
| XR_927494.3:n.3732_3734del (GATAD1) | ||
| XR_927503.3:n.3663_3665del (GATAD1) | ||
| NM_000466.3:c.3030+381_3030+383del (PEX1) MANE Select | NP_000457.1:n.3030+381_3030+383del | |
| NM_001282677.2:c.2859+381_2859+383del (PEX1) | NP_001269606.1:n.2859+381_2859+383del | |
| NM_001282678.2:c.2406+381_2406+383del (PEX1) | NP_001269607.1:n.2406+381_2406+383del |