Linked Data
ClinVar Variation Id:
8603
ClinVar RCV Id:
RCV000009134
RCV000030290
RCV000223778
RCV000463609
RCV000620220
RCV001181534
RCV002490342
RCV002508917
dbSNP Id:
rs193922384
gnomAD v3:
11-47332126-T-TGCAGACATAGATGCCCCC
gnomAD v4:
11-47332126-T-TGCAGACATAGATGCCCCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47332128_47332145dup , CM000673.2:g.47332128_47332145dup | GRCh38 |
| NC_000011.9:g.47353679_47353696dup , CM000673.1:g.47353679_47353696dup | GRCh37 |
| NC_000011.8:g.47310255_47310272dup | NCBI36 |
| NG_007667.1:g.25559_25576dup , LRG_386:g.25559_25576dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.3742_3759dup MANE Select | ENSP00000442795.1:p.Cys1253_Arg1254insGly... | |
| ENST00000256993.8:c.3742_3759dup | ENSP00000256993.5:p.Cys1253_Arg1254insGly... | |
| ENST00000399249.6:c.3742_3759dup | ENSP00000382193.2:p.Cys1253_Arg1254insGly... | |
| ENST00000545968.5:c.3742_3759dup | ENSP00000442795.1:p.Cys1253_Arg1254insGly... | |
| NM_000256.3:c.3742_3759dup , LRG_386t1:c.3742_3759dup MANE Select | NP_000247.2:p.Cys1253_Arg1254insGlyGlyIle... | |
| XM_011520117.1:c.3724_3741dup | XP_011518419.1:p.Cys1247_Arg1248insGlyGly... | |
| XM_011520118.1:c.3661_3678dup | XP_011518420.1:p.Cys1226_Arg1227insGlyGly... |