Linked Data
dbSNP Id:
rs767300365
ExAC:
10:112333549 C / CTTTTT
MyVariant Identifiers:
chr10:g.112333549_112333550insTTTTT (hg19)
chr10:g.110573791_110573792insTTTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110573793_110573794insTTTTT , CM000672.2:g.110573793_110573794insTTTTT | GRCh38 |
| NC_000010.10:g.112333551_112333552insTTTTT , CM000672.1:g.112333551_112333552insTTTTT | GRCh37 |
| NC_000010.9:g.112323541_112323542insTTTTT | NCBI36 |
| NG_012217.1:g.11103_11104insTTTTT , LRG_774:g.11103_11104insTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.263+48_263+49insTTTTT | ||
| ENST00000687823.1:n.45-1543_45-1542insTTTTT | ||
| ENST00000689932.1:n.651_652insTTTTT | ||
| ENST00000691297.1:n.263+48_263+49insTTTTT | ||
| ENST00000691527.1:n.220+48_220+49insTTTTT | ||
| ENST00000692792.1:n.249+48_249+49insTTTTT | ||
| ENST00000361804.5:c.130+48_130+49insTTTTT MANE Select | ENSP00000354720.5:n.130+48_130+49insTTTTT | |
| ENST00000361804.4:c.130+48_130+49insTTTTT | ENSP00000354720.4:n.130+48_130+49insTTTTT | |
| ENST00000462899.1:n.276+48_276+49insTTTTT | ||
| NM_005445.3:c.130+48_130+49insTTTTT , LRG_774t1:c.130+48_130+49insTTTTT | NP_005436.1:n.130+48_130+49insTTTTT | |
| NM_005445.4:c.130+48_130+49insTTTTT MANE Select | NP_005436.1:n.130+48_130+49insTTTTT |