Linked Data
ClinVar Variation Id:
1278319
ClinVar RCV Id:
RCV001695060
dbSNP Id:
rs36092508
gnomAD v2:
5-13769356-GT-G
gnomAD v3:
5-13769247-GT-G
gnomAD v4:
5-13769247-GT-G
MyVariant Identifiers:
chr5:g.13769358del (hg19)
chr5:g.13769357del (hg19)
chr5:g.13769249del (hg38)
chr5:g.13769248del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13769265del , CM000667.2:g.13769265del | GRCh38 |
| NC_000005.9:g.13769374del , CM000667.1:g.13769374del | GRCh37 |
| NC_000005.8:g.13822374del | NCBI36 |
| NG_013081.1:g.180233del | |
| NG_013081.2:g.180233del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.9721-112del MANE Select | ENSP00000265104.4:n.9721-112del | |
| ENST00000681290.1:c.9676-112del | ENSP00000505288.1:n.9676-112del | |
| ENST00000265104.4:c.9721-112del | ENSP00000265104.4:n.9721-112del | |
| ENST00000504001.3:n.433-112del | ||
| NM_001369.2:c.9721-112del | NP_001360.1:n.9721-112del | |
| XM_005248262.2:c.9676-112del | XP_005248319.1:n.9676-112del | |
| XM_005248262.3:c.9829-112del | XP_005248319.2:n.9829-112del | |
| XM_017009177.1:c.9829-112del | XP_016864666.1:n.9829-112del | |
| XM_017009178.1:c.8734-112del | XP_016864667.1:n.8734-112del | |
| XM_017009179.2:c.8734-112del | XP_016864668.1:n.8734-112del | |
| XM_017009180.1:c.9829-112del | XP_016864669.1:n.9829-112del | |
| XM_017009181.1:c.9829-112del | XP_016864670.1:n.9829-112del | |
| XM_017009182.1:c.9829-112del | XP_016864671.1:n.9829-112del | |
| XM_017009185.1:c.4918-112del | XP_016864674.1:n.4918-112del | |
| XM_017009186.1:c.4471-112del | XP_016864675.1:n.4471-112del | |
| XM_017009188.1:c.3808-112del | XP_016864677.1:n.3808-112del | |
| XM_024454388.1:c.8734-112del | XP_024310156.1:n.8734-112del | |
| XM_024454389.1:c.8323-112del | XP_024310157.1:n.8323-112del | |
| NM_001369.3:c.9721-112del MANE Select | NP_001360.1:n.9721-112del |