Linked Data
ClinVar Variation Id:
46397
ClinVar RCV Id:
RCV000039653
dbSNP Id:
rs377585302
ExAC:
5:90002221 T / TC
gnomAD v2:
5-90002221-T-TC
gnomAD v3:
5-90706404-T-TC
gnomAD v4:
5-90706404-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90706404_90706405insC , CM000667.2:g.90706404_90706405insC | GRCh38 |
| NC_000005.9:g.90002221_90002222insC , CM000667.1:g.90002221_90002222insC | GRCh37 |
| NC_000005.8:g.90037977_90037978insC | NCBI36 |
| NG_007083.1:g.152605_152606insC | |
| NG_007083.2:g.182061_182062insC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405460.9:c.8730+10_8730+11insC MANE Select | ENSP00000384582.2:n.8730+10_8730+11insC | |
| ENST00000639431.1:c.265+30195_265+30196insC | ENSP00000491057.1:n.265+30195_265+30196in... | |
| ENST00000639473.1:n.4189+10_4189+11insC | ||
| ENST00000640012.1:c.2537+10_2537+11insC | ||
| ENST00000640374.1:n.1874+10_1874+11insC | ||
| ENST00000640403.1:c.6021+10_6021+11insC | ENSP00000492531.1:n.6021+10_6021+11insC | |
| ENST00000640779.1:c.3459+10_3459+11insC | ||
| ENST00000405460.6:c.8730+10_8730+11insC | ENSP00000384582.2:n.8730+10_8730+11insC | |
| ENST00000509621.1:c.1427+10_1427+11insC | ||
| NM_032119.3:c.8730+10_8730+11insC | NP_115495.3:n.8730+10_8730+11insC | |
| NR_003149.1:n.8743+10_8743+11insC | ||
| XM_011543675.1:c.8727+10_8727+11insC | XP_011541977.1:n.8727+10_8727+11insC | |
| XM_011543676.1:c.8649+10_8649+11insC | XP_011541978.1:n.8649+10_8649+11insC | |
| XM_011543677.1:c.6033+10_6033+11insC | XP_011541979.1:n.6033+10_6033+11insC | |
| XM_011543678.1:c.8730+10_8730+11insC | XP_011541980.1:n.8730+10_8730+11insC | |
| XM_011543679.1:c.8730+10_8730+11insC | XP_011541981.1:n.8730+10_8730+11insC | |
| NM_032119.4:c.8730+10_8730+11insC MANE Select | NP_115495.3:n.8730+10_8730+11insC | |
| XM_017009963.2:c.8751+10_8751+11insC | XP_016865452.1:n.8751+10_8751+11insC | |
| XM_017009964.2:c.8748+10_8748+11insC | XP_016865453.1:n.8748+10_8748+11insC | |
| XM_017009965.1:c.8748+10_8748+11insC | XP_016865454.1:n.8748+10_8748+11insC | |
| XM_017009966.2:c.8670+10_8670+11insC | XP_016865455.1:n.8670+10_8670+11insC | |
| XM_017009967.1:c.8655+10_8655+11insC | XP_016865456.1:n.8655+10_8655+11insC | |
| XM_017009968.2:c.8751+10_8751+11insC | XP_016865457.1:n.8751+10_8751+11insC | |
| XM_017009969.2:c.8751+10_8751+11insC | XP_016865458.1:n.8751+10_8751+11insC | |
| XM_017009970.2:c.8751+10_8751+11insC | XP_016865459.1:n.8751+10_8751+11insC | |
| XM_017009971.2:c.8751+10_8751+11insC | XP_016865460.1:n.8751+10_8751+11insC | |
| XM_017009972.1:c.1869+10_1869+11insC | XP_016865461.1:n.1869+10_1869+11insC | |
| XM_017009973.1:c.1848+10_1848+11insC | XP_016865462.1:n.1848+10_1848+11insC | |
| XM_017009974.2:c.8751+10_8751+11insC | XP_016865463.1:n.8751+10_8751+11insC | |
| NR_003149.2:n.8746+10_8746+11insC |