Linked Data
dbSNP Id:
rs1064794137
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117807373_117807374insA , CM000670.2:g.117807373_117807374insA | GRCh38 |
| NC_000008.10:g.118819612_118819613insA , CM000670.1:g.118819612_118819613insA | GRCh37 |
| NC_000008.9:g.118888793_118888794insA | NCBI36 |
| NG_007455.2:g.309446_309447insT , LRG_493:g.309446_309447insT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684189.1:n.1193_1194insT | ||
| ENST00000378204.7:c.1726_1727insT MANE Select | ENSP00000367446.3:p.Asp576ValfsTer12 | |
| ENST00000378204.6:c.1726_1727insT | ENSP00000367446.2:p.Asp576ValfsTer12 | |
| ENST00000437196.1:c.*617_*618insT | ENSP00000407299.1:n.*617_*618insT | |
| NM_000127.2:c.1726_1727insT , LRG_493t1:c.1726_1727insT | NP_000118.2:p.Asp576ValfsTer12 | |
| NM_000127.3:c.1726_1727insT MANE Select | NP_000118.2:p.Asp576ValfsTer12 |