Linked Data
dbSNP Id:
rs746170259
ExAC:
3:110841103 GA / G
gnomAD v2:
3-110841103-GA-G
MyVariant Identifiers:
chr3:g.110841104del (hg19)
chr3:g.111122258del (hg38)
chr3:g.111122257del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.111122259del , CM000665.2:g.111122259del | GRCh38 |
| NC_000003.11:g.110841106del , CM000665.1:g.110841106del | GRCh37 |
| NC_000003.10:g.112323796del | NCBI36 |
| NG_029835.1:g.55501del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000485303.6:c.917+21del MANE Select | ENSP00000418070.1:n.917+21del | |
| ENST00000319792.7:c.917+21del | ENSP00000321514.3:n.917+21del | |
| ENST00000485303.5:c.917+21del | ENSP00000418070.1:n.917+21del | |
| ENST00000486596.5:c.618+21del | ||
| ENST00000493615.5:c.848+21del | ENSP00000420579.1:n.848+21del | |
| NM_001243286.1:c.917+21del | NP_001230215.1:n.917+21del | |
| NM_001243288.1:c.848+21del | NP_001230217.1:n.848+21del | |
| NM_015480.2:c.917+21del | NP_056295.1:n.917+21del | |
| XM_005247322.3:c.917+21del | XP_005247379.2:n.917+21del | |
| XM_011512662.1:c.1010+21del | XP_011510964.1:n.1010+21del | |
| XM_011512663.1:c.1010+21del | XP_011510965.1:n.1010+21del | |
| XM_011512664.1:c.848+21del | XP_011510966.1:n.848+21del | |
| XM_011512665.1:c.1010+21del | XP_011510967.1:n.1010+21del | |
| XM_011512666.1:c.1010+21del | XP_011510968.1:n.1010+21del | |
| XM_011512667.1:c.281+21del | XP_011510969.1:n.281+21del | |
| XR_924122.1:n.1240+21del | ||
| XM_017006123.1:c.1010+21del | XP_016861612.1:n.1010+21del | |
| XM_017006124.1:c.872+21del | XP_016861613.1:n.872+21del | |
| XM_017006125.1:c.848+21del | XP_016861614.1:n.848+21del | |
| XM_017006126.1:c.917+21del | XP_016861615.1:n.917+21del | |
| XM_017006127.2:c.281+21del | XP_016861616.1:n.281+21del | |
| XR_002959508.1:n.1198+21del | ||
| XR_924122.2:n.1240+21del | ||
| NM_015480.3:c.917+21del MANE Select | NP_056295.1:n.917+21del | |
| NM_001243286.2:c.917+21del | NP_001230215.1:n.917+21del | |
| NM_001243288.2:c.848+21del | NP_001230217.1:n.848+21del |