Linked Data
dbSNP Id:
rs751145375
ExAC:
7:92123812 TCTA / T
gnomAD v2:
7-92123812-TCTA-T
gnomAD v4:
7-92494498-TCTA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92494501_92494503del , CM000669.2:g.92494501_92494503del | GRCh38 |
| NC_000007.13:g.92123815_92123817del , CM000669.1:g.92123815_92123817del | GRCh37 |
| NC_000007.12:g.91961751_91961753del | NCBI36 |
| NG_008341.1:g.39031_39033del | |
| NG_008341.2:g.39031_39033del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2912_2914del (PEX1) MANE Select | ENSP00000248633.4:p.Val971del | |
| ENST00000248633.8:c.2912_2914del (PEX1) | ENSP00000248633.4:p.Val971del | |
| ENST00000428214.5:c.2741_2743del (PEX1) | ENSP00000394413.1:p.Val914del | |
| ENST00000438045.5:c.1946_1948del (PEX1) | ENSP00000410438.1:p.Val649del | |
| ENST00000484913.5:n.2951_2953del (PEX1) | ||
| ENST00000496420.5:n.2804_2806del (PEX1) | ||
| NM_000466.2:c.2912_2914del (PEX1) | NP_000457.1:p.Val971del | |
| NM_001282677.1:c.2741_2743del (PEX1) | NP_001269606.1:p.Val914del | |
| NM_001282678.1:c.2288_2290del (PEX1) | NP_001269607.1:p.Val763del | |
| XM_005250433.3:c.1163_1165del (PEX1) | XP_005250490.1:p.Val388del | |
| XR_242246.3:n.3008_3010del (PEX1) | ||
| XM_017012319.2:c.1163_1165del (PEX1) | XP_016867808.1:p.Val388del | |
| XR_001744808.2:n.1939_1941del (PEX1) | ||
| XR_001744843.2:n.5470_5472del (GATAD1) | ||
| XR_242246.5:n.2959_2961del (PEX1) | ||
| XR_927494.3:n.4321_4323del (GATAD1) | ||
| XR_927503.3:n.4252_4254del (GATAD1) | ||
| NM_000466.3:c.2912_2914del (PEX1) MANE Select | NP_000457.1:p.Val971del | |
| NM_001282677.2:c.2741_2743del (PEX1) | NP_001269606.1:p.Val914del | |
| NM_001282678.2:c.2288_2290del (PEX1) | NP_001269607.1:p.Val763del |