Linked Data
dbSNP Id:
rs1453995321
gnomAD v2:
11-17408501-G-GCTTGGC
gnomAD v3:
11-17386954-G-GCTTGGC
gnomAD v4:
11-17386954-G-GCTTGGC
MyVariant Identifiers:
chr11:g.17408501_17408502insCTTGGC (hg19)
chr11:g.17386954_17386955insCTTGGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17386962_17386967dup , CM000673.2:g.17386962_17386967dup | GRCh38 |
| NC_000011.9:g.17408509_17408514dup , CM000673.1:g.17408509_17408514dup | GRCh37 |
| NC_000011.8:g.17365085_17365090dup | NCBI36 |
| NG_012446.1:g.6700_6705dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682350.1:c.871_876dup | ENSP00000508090.1:p.Lys292_Pro293insAlaLys | |
| ENST00000682764.1:c.871_876dup | ENSP00000506780.1:p.Lys292_Pro293insAlaLys | |
| ENST00000339994.5:c.1132_1137dup MANE Select | ENSP00000345708.4:p.Lys379_Pro380insAlaLys | |
| ENST00000339994.4:c.1132_1137dup | ENSP00000345708.4:p.Lys379_Pro380insAlaLys | |
| ENST00000528731.1:c.871_876dup | ENSP00000434755.1:p.Lys292_Pro293insAlaLys | |
| NM_000525.3:c.1132_1137dup | NP_000516.3:p.Lys379_Pro380insAlaLys | |
| NM_001166290.1:c.871_876dup | NP_001159762.1:p.Lys292_Pro293insAlaLys | |
| XM_006718226.2:c.871_876dup | XP_006718289.1:p.Lys292_Pro293insAlaLys | |
| XR_930867.1:n.1290_1295dup | ||
| XM_006718226.3:c.871_876dup | XP_006718289.1:p.Lys292_Pro293insAlaLys | |
| XM_017017680.1:c.871_876dup | XP_016873169.1:p.Lys292_Pro293insAlaLys | |
| NM_001166290.2:c.871_876dup | NP_001159762.1:p.Lys292_Pro293insAlaLys | |
| NM_001377296.1:c.871_876dup | NP_001364225.1:p.Lys292_Pro293insAlaLys | |
| NM_001377297.1:c.871_876dup | NP_001364226.1:p.Lys292_Pro293insAlaLys | |
| NM_000525.4:c.1132_1137dup MANE Select | NP_000516.3:p.Lys379_Pro380insAlaLys |