MyVariant.info:
GRCh38
chr1:g.11844022_11844023insA
GRCh38
chr1:g.11844023delinsAC
GRCh37
chr1:g.11904079_11904080insA
GRCh37
chr1:g.11904080delinsAC
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00888717 (MID)
Genomes Max Group AF
0.00130002 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11844022_11844023insA , CM000663.2:g.11844022_11844023insA | GRCh38 |
| NC_000001.10:g.11904079_11904080insA , CM000663.1:g.11904079_11904080insA | GRCh37 |
| NC_000001.9:g.11826666_11826667insA | NCBI36 |
| NG_008766.1:g.42873_42874insA | |
| NG_012926.1:g.8761_8762insT , LRG_751:g.8761_8762insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400892.3:c.*1690_*1691insA (CLCN6) | ENSP00000496938.1:n.*1690_*1691insA | |
| ENST00000446542.5:n.510_511insA (NPPA-AS1) | ||
| NR_037806.1:n.1208_1209insA (NPPA-AS1) |