Linked Data
dbSNP Id:
rs781627343
ExAC:
1:216420163 G / GAGCC
gnomAD v2:
1-216420163-G-GAGCC
gnomAD v4:
1-216246821-G-GAGCC
MyVariant Identifiers:
chr1:g.216420163_216420164insAGCC (hg19)
chr1:g.216246821_216246822insAGCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216246823_216246826dup , CM000663.2:g.216246823_216246826dup | GRCh38 |
| NC_000001.10:g.216420165_216420168dup , CM000663.1:g.216420165_216420168dup | GRCh37 |
| NC_000001.9:g.214486788_214486791dup | NCBI36 |
| NG_009497.1:g.181572_181575dup | |
| NG_009497.2:g.181624_181627dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.2569_2572dup MANE Select | ENSP00000305941.3:p.Ser858TrpfsTer6 | |
| ENST00000674083.1:c.2569_2572dup | ENSP00000501296.1:p.Ser858TrpfsTer6 | |
| ENST00000307340.7:c.2569_2572dup | ENSP00000305941.3:p.Ser858TrpfsTer6 | |
| ENST00000366942.3:c.2569_2572dup | ENSP00000355909.3:p.Ser858TrpfsTer6 | |
| NM_007123.5:c.2569_2572dup | NP_009054.5:p.Ser858TrpfsTer6 | |
| NM_206933.2:c.2569_2572dup | NP_996816.2:p.Ser858TrpfsTer6 | |
| NM_206933.3:c.2569_2572dup | NP_996816.2:p.Ser858TrpfsTer6 | |
| NM_007123.6:c.2569_2572dup | NP_009054.6:p.Ser858TrpfsTer6 | |
| NM_206933.4:c.2569_2572dup MANE Select | NP_996816.3:p.Ser858TrpfsTer6 |