Linked Data
dbSNP Id:
rs1348127810
MyVariant Identifiers:
chr5:g.1431181_1431182insTCCTCTCC (hg19)
chr5:g.1431066_1431067insTCCTCTCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1431075_1431082dup , CM000667.2:g.1431075_1431082dup | GRCh38 |
| NC_000005.9:g.1431190_1431197dup , CM000667.1:g.1431190_1431197dup | GRCh37 |
| NC_000005.8:g.1484190_1484197dup | NCBI36 |
| NG_015885.1:g.19355_19362dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.653+1390_653+1397dup MANE Select | ENSP00000270349.9:n.653+1390_653+1397dup | |
| ENST00000270349.11:c.653+1390_653+1397dup | ENSP00000270349.9:n.653+1390_653+1397dup | |
| NM_001044.4:c.653+1390_653+1397dup | NP_001035.1:n.653+1390_653+1397dup | |
| NM_001044.5:c.653+1390_653+1397dup MANE Select | NP_001035.1:n.653+1390_653+1397dup |