Linked Data
dbSNP Id:
rs747999679
ExAC:
11:55579359 G / GCTTTCT
MyVariant Identifiers:
chr11:g.55579359_55579360insCTTTCT (hg19)
chr11:g.55811883_55811884insCTTTCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.55811883_55811884insCTTTCT , CM000673.2:g.55811883_55811884insCTTTCT | GRCh38 |
| NC_000011.9:g.55579359_55579360insCTTTCT , CM000673.1:g.55579359_55579360insCTTTCT | GRCh37 |
| NC_000011.8:g.55335935_55335936insCTTTCT | NCBI36 |
| NG_052620.1:g.5517_5518insCTTTCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000625203.2:c.417_418insCTTTCT MANE Select | ENSP00000485319.1:p.Lys139_Val140insLeuSer | |
| ENST00000333973.3:c.417_418insCTTTCT | ENSP00000335529.2:p.Lys139_Val140insLeuSer | |
| ENST00000623450.1:c.417_418insCTTTCT | ENSP00000485509.1:p.Lys139_Val140insLeuSer | |
| ENST00000625203.1:c.417_418insCTTTCT | ENSP00000485319.1:p.Lys139_Val140insLeuSer | |
| NM_001004738.1:c.417_418insCTTTCT | NP_001004738.1:p.Lys139_Val140insLeuSer | |
| NM_001004738.2:c.417_418insCTTTCT MANE Select | NP_001004738.1:p.Lys139_Val140insLeuSer |