Linked Data
gnomAD v3:
2-29071102-G-GAAGAGCACACGTCTGAACT
gnomAD v4:
2-29071102-G-GAAGAGCACACGTCTGAACT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29071102_29071103insAAGAGCACACGTCTGAACT , CM000664.2:g.29071102_29071103insAAGAGCACACGTCTGAACT | GRCh38 |
| NC_000002.11:g.29293968_29293969insAAGAGCACACGTCTGAACT , CM000664.1:g.29293968_29293969insAAGAGCACACGTCTGAACT | GRCh37 |
| NC_000002.10:g.29147472_29147473insAAGAGCACACGTCTGAACT | NCBI36 |
| NG_021427.1:g.8159_8160insAGTTCAGACGTGTGCTCTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.3159_3160insAGTTCAGACGTGTGCTCTT MANE Select | ENSP00000332809.4:p.Pro1054SerfsTer? | |
| ENST00000331664.5:c.3159_3160insAGTTCAGACGTGTGCTCTT | ENSP00000332809.4:p.Pro1054SerfsTer? | |
| NM_001029883.2:c.3159_3160insAGTTCAGACGTGTGCTCTT | NP_001025054.1:p.Pro1054SerfsTer? | |
| XM_011532826.1:c.3159_3160insAGTTCAGACGTGTGCTCTT | XP_011531128.1:p.Pro1054SerfsTer? | |
| XR_939901.1:n.185+1935_185+1936insAAGAGCACACGTCTGAACT | ||
| XR_939902.1:n.173+1947_173+1948insAAGAGCACACGTCTGAACT | ||
| NM_001029883.3:c.3159_3160insAGTTCAGACGTGTGCTCTT MANE Select | NP_001025054.1:p.Pro1054SerfsTer? |