Linked Data
ClinVar Variation Id:
2129144
ClinVar RCV Id:
RCV003057930
gnomAD v4:
7-92494470-GTATT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92494474_92494477del , CM000669.2:g.92494474_92494477del | GRCh38 |
| NC_000007.13:g.92123788_92123791del , CM000669.1:g.92123788_92123791del | GRCh37 |
| NC_000007.12:g.91961724_91961727del | NCBI36 |
| NG_008341.1:g.39058_39061del | |
| NG_008341.2:g.39058_39061del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2926+13_2926+16del (PEX1) MANE Select | ENSP00000248633.4:n.2926+13_2926+16del | |
| ENST00000248633.8:c.2926+13_2926+16del (PEX1) | ENSP00000248633.4:n.2926+13_2926+16del | |
| ENST00000428214.5:c.2755+13_2755+16del (PEX1) | ENSP00000394413.1:n.2755+13_2755+16del | |
| ENST00000438045.5:c.1960+13_1960+16del (PEX1) | ENSP00000410438.1:n.1960+13_1960+16del | |
| ENST00000484913.5:n.2965+13_2965+16del (PEX1) | ||
| ENST00000496420.5:n.2818+13_2818+16del (PEX1) | ||
| NM_000466.2:c.2926+13_2926+16del (PEX1) | NP_000457.1:n.2926+13_2926+16del | |
| NM_001282677.1:c.2755+13_2755+16del (PEX1) | NP_001269606.1:n.2755+13_2755+16del | |
| NM_001282678.1:c.2302+13_2302+16del (PEX1) | NP_001269607.1:n.2302+13_2302+16del | |
| XM_005250433.3:c.1177+13_1177+16del (PEX1) | XP_005250490.1:n.1177+13_1177+16del | |
| XR_242246.3:n.3022+13_3022+16del (PEX1) | ||
| XM_017012319.2:c.1177+13_1177+16del (PEX1) | XP_016867808.1:n.1177+13_1177+16del | |
| XR_001744808.2:n.1953+13_1953+16del (PEX1) | ||
| XR_001744843.2:n.5443_5446del (GATAD1) | ||
| XR_242246.5:n.2973+13_2973+16del (PEX1) | ||
| XR_927494.3:n.4294_4297del (GATAD1) | ||
| XR_927503.3:n.4225_4228del (GATAD1) | ||
| NM_000466.3:c.2926+13_2926+16del (PEX1) MANE Select | NP_000457.1:n.2926+13_2926+16del | |
| NM_001282677.2:c.2755+13_2755+16del (PEX1) | NP_001269606.1:n.2755+13_2755+16del | |
| NM_001282678.2:c.2302+13_2302+16del (PEX1) | NP_001269607.1:n.2302+13_2302+16del |