gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.215011367dup , CM000664.2:g.215011367dup | GRCh38 |
| NC_000002.11:g.215876091dup , CM000664.1:g.215876091dup | GRCh37 |
| NC_000002.10:g.215584336dup | NCBI36 |
| NG_007074.1:g.132066dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.2332+77dup MANE Select | ENSP00000272895.7:n.2332+77dup | |
| ENST00000272895.11:c.2332+77dup | ENSP00000272895.7:n.2332+77dup | |
| ENST00000389661.4:c.1378+77dup | ENSP00000374312.4:n.1378+77dup | |
| NM_015657.3:c.1378+77dup | NP_056472.2:n.1378+77dup | |
| NM_173076.2:c.2332+77dup | NP_775099.2:n.2332+77dup | |
| NR_103740.1:n.2576+77dup | ||
| XM_011510951.1:c.2332+77dup | XP_011509253.1:n.2332+77dup | |
| XM_011510952.1:c.2332+77dup | XP_011509254.1:n.2332+77dup | |
| XM_011510951.2:c.2332+77dup | XP_011509253.1:n.2332+77dup | |
| NM_173076.3:c.2332+77dup MANE Select | NP_775099.2:n.2332+77dup | |
| NR_103740.2:n.2774+77dup | ||
| NM_015657.4:c.1378+77dup | NP_056472.2:n.1378+77dup |