Linked Data
dbSNP Id:
rs2056510747
gnomAD v3:
16-30987957-T-TGGTGTTCCTGGCTGCC
gnomAD v4:
16-30987957-T-TGGTGTTCCTGGCTGCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30987958_30987973dup , CM000678.2:g.30987958_30987973dup | GRCh38 |
| NC_000016.9:g.30999279_30999294dup , CM000678.1:g.30999279_30999294dup | GRCh37 |
| NC_000016.8:g.30906780_30906795dup | NCBI36 |
| NG_012346.1:g.7761_7776dup | |
| NG_041829.1:g.27536_27551dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297679.10:c.885_900dup MANE Select | ENSP00000297679.5:p.Leu301GlyfsTer? | |
| ENST00000262520.10:c.*131_*146dup | ENSP00000262520.6:n.*131_*146dup | |
| ENST00000297679.9:c.885_900dup | ENSP00000297679.5:p.Leu301GlyfsTer? | |
| NM_001142777.1:c.*131_*146dup | NP_001136249.1:n.*131_*146dup | |
| NM_001142778.1:c.*131_*146dup | NP_001136250.1:n.*131_*146dup | |
| NM_025193.3:c.885_900dup | NP_079469.2:p.Leu301GlyfsTer? | |
| XM_005255601.3:c.885_900dup | XP_005255658.2:p.Leu301GlyfsTer? | |
| XM_011545960.1:c.885_900dup | XP_011544262.1:p.Leu301GlyfsTer? | |
| XM_011545961.1:c.885_900dup | XP_011544263.1:p.Leu301GlyfsTer? | |
| XM_011545960.2:c.885_900dup | XP_011544262.1:p.Leu301GlyfsTer? | |
| XM_011545962.2:c.*131_*146dup | XP_011544264.1:n.*131_*146dup | |
| XM_017023732.1:c.*131_*146dup | XP_016879221.1:n.*131_*146dup | |
| NM_025193.4:c.885_900dup MANE Select | NP_079469.2:p.Leu301GlyfsTer? | |
| NM_001142777.2:c.*131_*146dup | NP_001136249.1:n.*131_*146dup | |
| NM_001142778.2:c.*131_*146dup | NP_001136250.1:n.*131_*146dup |