Linked Data
dbSNP Id:
rs1183872251
MyVariant Identifiers:
chr6:g.24302008_24302009insTTCAAGGTT (hg19)
chr6:g.24301780_24301781insTTCAAGGTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24301783_24301791dup , CM000668.2:g.24301783_24301791dup | GRCh38 |
| NC_000006.11:g.24302011_24302019dup , CM000668.1:g.24302011_24302019dup | GRCh37 |
| NC_000006.10:g.24409990_24409998dup | NCBI36 |
| NG_012829.1:g.61264_61272dup | |
| NG_012829.2:g.86504_86512dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.483_491dup MANE Select | ENSP00000367715.3:p.Leu163_Asn164insLysThrLeu | |
| ENST00000378454.7:c.483_491dup | ENSP00000367715.3:p.Leu163_Asn164insLysThrLeu | |
| NM_001195610.1:c.483_491dup | NP_001182539.1:p.Leu163_Asn164insLysThrLeu | |
| NM_016356.4:c.483_491dup | NP_057440.2:p.Leu163_Asn164insLysThrLeu | |
| NM_016356.5:c.483_491dup MANE Select | NP_057440.2:p.Leu163_Asn164insLysThrLeu | |
| NM_001195610.2:c.483_491dup | NP_001182539.1:p.Leu163_Asn164insLysThrLeu |