Linked Data
ClinVar Variation Id:
353359
ClinVar RCV Id:
RCV000394993
dbSNP Id:
rs376839773
gnomAD v2:
5-36876925-TC-T
gnomAD v3:
5-36876823-TC-T
gnomAD v4:
5-36876823-TC-T
MyVariant Identifiers:
chr5:g.36876931del (hg19)
chr5:g.36876926del (hg19)
chr5:g.36876829del (hg38)
chr5:g.36876824del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.36876829del , CM000667.2:g.36876829del | GRCh38 |
| NC_000005.9:g.36876931del , CM000667.1:g.36876931del | GRCh37 |
| NC_000005.8:g.36912688del | NCBI36 |
| NG_006987.1:g.4947del | |
| NG_006987.2:g.4947del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000282516.13:c.-429del MANE Select | ENSP00000282516.8:n.-429del | |
| ENST00000282516.12:c.-429del | ENSP00000282516.8:n.-429del | |
| ENST00000448238.2:c.-429del | ENSP00000406266.2:n.-429del | |
| NM_015384.4:c.-429del | NP_056199.2:n.-429del | |
| NM_133433.3:c.-429del | NP_597677.2:n.-429del | |
| XM_005248280.2:c.-429del | XP_005248337.1:n.-429del | |
| XM_006714467.2:c.-429del | XP_006714530.1:n.-429del | |
| XM_006714468.1:c.-429del | XP_006714531.1:n.-429del | |
| XM_011514014.1:c.-429del | XP_011512316.1:n.-429del | |
| XM_011514015.1:c.-429del | XP_011512317.1:n.-429del | |
| XM_005248280.3:c.-429del | XP_005248337.1:n.-429del | |
| XM_006714468.2:c.-429del | XP_006714531.1:n.-429del | |
| XM_017009329.1:c.-429del | XP_016864818.1:n.-429del | |
| XM_017009331.1:c.-429del | XP_016864820.1:n.-429del | |
| NM_133433.4:c.-429del MANE Select | NP_597677.2:n.-429del | |
| NM_015384.5:c.-429del | NP_056199.2:n.-429del |