Linked Data
dbSNP Id:
rs777732978
ExAC:
12:121615148 T / TG
gnomAD v2:
12-121615148-T-TG
gnomAD v4:
12-121177345-T-TG
MyVariant Identifiers:
chr12:g.121615148_121615149insG (hg19)
chr12:g.121177345_121177346insG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121177346dup , CM000674.2:g.121177346dup | GRCh38 |
| NC_000012.11:g.121615149dup , CM000674.1:g.121615149dup | GRCh37 |
| NC_000012.10:g.120099532dup | NCBI36 |
| NG_011471.2:g.49472dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328963.10:c.1088dup MANE Select | ENSP00000330696.6:p.Cys363TrpfsTer? | |
| ENST00000261826.10:c.*541dup | ENSP00000261826.6:n.*541dup | |
| ENST00000328963.9:c.1088dup | ENSP00000330696.6:p.Cys363TrpfsTer? | |
| ENST00000535250.5:c.1172dup | ENSP00000442572.2:n.1172dup | |
| ENST00000535600.2:c.905dup | ENSP00000442470.1:n.905dup | |
| ENST00000537312.5:c.*859dup | ENSP00000438586.1:n.*859dup | |
| ENST00000538011.5:c.1227dup | ENSP00000439247.1:n.1227dup | |
| ENST00000539606.5:c.1311dup | ENSP00000445325.1:n.1311dup | |
| ENST00000539695.5:n.1257dup | ||
| ENST00000541022.5:c.878dup | ENSP00000441230.1:n.878dup | |
| ENST00000541564.5:c.951dup | ENSP00000443640.1:n.951dup | |
| ENST00000541716.5:c.1099dup | ENSP00000437729.1:n.1099dup | |
| NM_002562.5:c.1088dup | NP_002553.3:p.Cys363TrpfsTer? | |
| NR_033948.1:n.1454dup | ||
| NR_033949.1:n.1370dup | ||
| NR_033950.1:n.1331dup | ||
| NR_033951.1:n.1315dup | ||
| NR_033952.1:n.1242dup | ||
| NR_033953.1:n.1155dup | ||
| NR_033954.1:n.1134dup | ||
| NR_033955.1:n.1094dup | ||
| NR_033956.1:n.1021dup | ||
| XM_011538418.1:c.821dup | XP_011536720.1:p.Cys274TrpfsTer? | |
| XM_011538419.1:c.776dup | XP_011536721.1:p.Cys259TrpfsTer? | |
| XM_011538420.1:c.221dup | XP_011536722.1:p.Cys74TrpfsTer? | |
| XR_945459.1:n.190-14929dup | ||
| XR_945460.1:n.299-14929dup | ||
| XM_011538419.3:c.776dup | XP_011536721.1:p.Cys259TrpfsTer? | |
| XM_011538420.3:c.221dup | XP_011536722.1:p.Cys74TrpfsTer? | |
| XM_017019364.2:c.728dup | XP_016874853.1:p.Cys243TrpfsTer? | |
| XM_017019365.2:c.728dup | XP_016874854.1:p.Cys243TrpfsTer? | |
| XM_017019366.2:c.335dup | XP_016874855.1:p.Cys112TrpfsTer? | |
| XM_017019367.2:c.335dup | XP_016874856.1:p.Cys112TrpfsTer? | |
| XR_001749352.2:n.186+26152dup | ||
| XR_001749353.2:n.304-14929dup | ||
| XR_001749354.2:n.186+26152dup | ||
| XR_945459.3:n.187-14929dup | ||
| XR_945460.3:n.299-14929dup | ||
| NM_002562.6:c.1088dup MANE Select | NP_002553.3:p.Cys363TrpfsTer? | |
| NR_033948.2:n.1406dup | ||
| NR_033949.2:n.1322dup | ||
| NR_033950.2:n.1283dup | ||
| NR_033951.2:n.1267dup | ||
| NR_033952.2:n.1194dup | ||
| NR_033953.2:n.1098dup | ||
| NR_033954.2:n.1086dup | ||
| NR_033955.2:n.1046dup | ||
| NR_033956.2:n.973dup |