Linked Data
dbSNP Id:
rs574661542
gnomAD v2:
1-242053182-C-CTACT
gnomAD v3:
1-241889880-C-CTACT
gnomAD v4:
1-241889880-C-CTACT
MyVariant Identifiers:
chr1:g.242053182_242053183insTACT (hg19)
chr1:g.241889880_241889881insTACT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241889881_241889884dup , CM000663.2:g.241889881_241889884dup | GRCh38 |
| NC_000001.10:g.242053183_242053186dup , CM000663.1:g.242053183_242053186dup | GRCh37 |
| NC_000001.9:g.240119806_240119809dup | NCBI36 |
| NG_029100.1:g.46691_46694dup | |
| NG_029100.2:g.46691_46694dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366548.8:c.*281_*284dup MANE Select | ENSP00000355506.3:n.*281_*284dup | |
| ENST00000348581.9:c.*281_*284dup | ENSP00000311873.5:n.*281_*284dup | |
| ENST00000366548.7:c.*281_*284dup | ENSP00000355506.3:n.*281_*284dup | |
| ENST00000518741.1:n.152-2643_152-2640dup | ||
| NM_003686.4:c.*408_*411dup | NP_003677.4:n.*408_*411dup | |
| NM_006027.4:c.*281_*284dup | NP_006018.4:n.*281_*284dup | |
| NM_130398.3:c.*281_*284dup | NP_569082.2:n.*281_*284dup | |
| XM_011544321.1:c.*281_*284dup | XP_011542623.1:n.*281_*284dup | |
| XM_011544322.1:c.*281_*284dup | XP_011542624.1:n.*281_*284dup | |
| XR_949162.1:n.2990+4374_2990+4377dup | ||
| NM_001319224.1:c.*281_*284dup | NP_001306153.1:n.*281_*284dup | |
| XM_006711840.2:c.*281_*284dup | XP_006711903.1:n.*281_*284dup | |
| XM_011544321.2:c.*281_*284dup | XP_011542623.1:n.*281_*284dup | |
| XM_011544323.2:c.*281_*284dup | XP_011542625.1:n.*281_*284dup | |
| XM_011544324.2:c.*281_*284dup | XP_011542626.1:n.*281_*284dup | |
| XM_011544325.2:c.*281_*284dup | XP_011542627.1:n.*281_*284dup | |
| XM_017002793.2:c.*281_*284dup | XP_016858282.1:n.*281_*284dup | |
| NM_130398.4:c.*281_*284dup MANE Select | NP_569082.2:n.*281_*284dup | |
| NM_001319224.2:c.*281_*284dup | NP_001306153.1:n.*281_*284dup |