Linked Data
dbSNP Id:
rs1305429331
gnomAD v2:
5-89988085-TA-T
gnomAD v3:
5-90692268-TA-T
gnomAD v4:
5-90692268-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90692274del , CM000667.2:g.90692274del | GRCh38 |
| NC_000005.9:g.89988091del , CM000667.1:g.89988091del | GRCh37 |
| NC_000005.8:g.90023847del | NCBI36 |
| NG_007083.1:g.138475del | |
| NG_007083.2:g.167931del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.6952-331del MANE Select | ENSP00000384582.2:n.6952-331del | |
| ENST00000639431.1:c.265+16065del | ENSP00000491057.1:n.265+16065del | |
| ENST00000639473.1:n.2411-331del | ||
| ENST00000640012.1:c.759-331del | ||
| ENST00000640374.1:n.96-331del | ||
| ENST00000640403.1:c.4243-331del | ENSP00000492531.1:n.4243-331del | |
| ENST00000640779.1:c.1681-331del | ||
| ENST00000405460.6:c.6952-331del | ENSP00000384582.2:n.6952-331del | |
| NM_032119.3:c.6952-331del | NP_115495.3:n.6952-331del | |
| NR_003149.1:n.6965-331del | ||
| XM_011543675.1:c.6949-331del | XP_011541977.1:n.6949-331del | |
| XM_011543676.1:c.6871-331del | XP_011541978.1:n.6871-331del | |
| XM_011543677.1:c.4255-331del | XP_011541979.1:n.4255-331del | |
| XM_011543678.1:c.6952-331del | XP_011541980.1:n.6952-331del | |
| XM_011543679.1:c.6952-331del | XP_011541981.1:n.6952-331del | |
| NM_032119.4:c.6952-331del MANE Select | NP_115495.3:n.6952-331del | |
| XM_017009963.2:c.6952-331del | XP_016865452.1:n.6952-331del | |
| XM_017009964.2:c.6949-331del | XP_016865453.1:n.6949-331del | |
| XM_017009965.1:c.6949-331del | XP_016865454.1:n.6949-331del | |
| XM_017009966.2:c.6871-331del | XP_016865455.1:n.6871-331del | |
| XM_017009967.1:c.6856-331del | XP_016865456.1:n.6856-331del | |
| XM_017009968.2:c.6952-331del | XP_016865457.1:n.6952-331del | |
| XM_017009969.2:c.6952-331del | XP_016865458.1:n.6952-331del | |
| XM_017009970.2:c.6952-331del | XP_016865459.1:n.6952-331del | |
| XM_017009971.2:c.6952-331del | XP_016865460.1:n.6952-331del | |
| XM_017009972.1:c.70-331del | XP_016865461.1:n.70-331del | |
| XM_017009973.1:c.70-331del | XP_016865462.1:n.70-331del | |
| XM_017009974.2:c.6952-331del | XP_016865463.1:n.6952-331del | |
| NR_003149.2:n.6968-331del |