Linked Data
dbSNP Id:
rs1012325962
gnomAD v2:
5-225451-TC-T
gnomAD v3:
5-225336-TC-T
gnomAD v4:
5-225336-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.225342del , CM000667.2:g.225342del | GRCh38 |
| NC_000005.9:g.225457del , CM000667.1:g.225457del | GRCh37 |
| NC_000005.8:g.278457del | NCBI36 |
| NG_012339.1:g.12102del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264932.11:c.313-77del MANE Select | ENSP00000264932.6:n.313-77del | |
| ENST00000651543.1:c.313-77del | ENSP00000499215.1:n.313-77del | |
| ENST00000264932.10:c.313-77del | ENSP00000264932.6:n.313-77del | |
| ENST00000504309.5:c.313-77del | ENSP00000426514.1:n.313-77del | |
| ENST00000504824.5:n.298-77del | ||
| ENST00000505555.5:n.353-77del | ||
| ENST00000509632.5:c.*141-77del | ENSP00000425077.1:n.*141-77del | |
| ENST00000510361.5:c.313-541del | ENSP00000427703.1:n.313-541del | |
| ENST00000617470.4:c.313-77del | ENSP00000484230.1:n.313-77del | |
| NM_001294332.1:c.313-541del | NP_001281261.1:n.313-541del | |
| NM_004168.3:c.313-77del | NP_004159.2:n.313-77del | |
| XM_005248331.2:c.313-77del | XP_005248388.1:n.313-77del | |
| XM_011514072.1:c.313-77del | XP_011512374.1:n.313-77del | |
| XM_011514073.1:c.313-77del | XP_011512375.1:n.313-77del | |
| XR_925638.1:n.446-77del | ||
| NM_001330758.1:c.313-77del | NP_001317687.1:n.313-77del | |
| XM_011514072.2:c.313-77del | XP_011512374.1:n.313-77del | |
| XM_011514073.2:c.313-77del | XP_011512375.1:n.313-77del | |
| XM_017009685.2:c.313-77del | XP_016865174.1:n.313-77del | |
| XM_024446143.1:c.313-541del | XP_024301911.1:n.313-541del | |
| XR_002956167.1:n.360-77del | ||
| NM_004168.4:c.313-77del MANE Select | NP_004159.2:n.313-77del | |
| NM_001294332.2:c.313-541del | NP_001281261.1:n.313-541del | |
| NM_001330758.2:c.313-77del | NP_001317687.1:n.313-77del |