Linked Data
dbSNP Id:
rs116840746
MyVariant Identifiers:
chr7:g.42011980_42011981delinsAT (hg19)
chr7:g.41972381_41972382delinsAT (hg38)
PubMed:
PMID:20301638
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.41972381_41972382delinsAT , CM000669.2:g.41972381_41972382delinsAT | GRCh38 |
| NC_000007.13:g.42011980_42011981delinsAT , CM000669.1:g.42011980_42011981delinsAT | GRCh37 |
| NC_000007.12:g.41978505_41978506delinsAT | NCBI36 |
| NG_008434.1:g.269638_269639delinsAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395925.8:c.2058_2059delinsAT MANE Select | ENSP00000379258.3:p.Arg687Ter | |
| ENST00000677288.1:c.1884_1885delinsAT | ENSP00000503986.1:p.Arg629Ter | |
| ENST00000677605.1:c.2058_2059delinsAT | ENSP00000503743.1:p.Arg687Ter | |
| ENST00000678429.1:c.2058_2059delinsAT | ENSP00000502957.1:p.Arg687Ter | |
| ENST00000395925.7:c.2058_2059delinsAT | ENSP00000379258.3:p.Arg687Ter | |
| ENST00000479210.1:n.2035_2036delinsAT | ||
| NM_000168.5:c.2058_2059delinsAT | NP_000159.3:p.Arg687Ter | |
| XM_005249703.1:c.2058_2059delinsAT | XP_005249760.1:p.Arg687Ter | |
| XM_005249704.2:c.2058_2059delinsAT | XP_005249761.1:p.Arg687Ter | |
| XM_011515272.1:c.2058_2059delinsAT | XP_011513574.1:p.Arg687Ter | |
| XM_011515273.1:c.2058_2059delinsAT | XP_011513575.1:p.Arg687Ter | |
| XM_011515274.1:c.1881_1882delinsAT | XP_011513576.1:p.Arg628Ter | |
| XM_011515274.2:c.1881_1882delinsAT | XP_011513576.1:p.Arg628Ter | |
| XM_017011997.1:c.2055_2056delinsAT | XP_016867486.1:p.Arg686Ter | |
| NM_000168.6:c.2058_2059delinsAT MANE Select | NP_000159.3:p.Arg687Ter |