Linked Data
dbSNP Id:
rs760998449
ExAC:
17:48051297 A / AGATG
gnomAD v2:
17-48051297-A-AGATG
gnomAD v4:
17-49973933-A-AGATG
MyVariant Identifiers:
chr17:g.48051297_48051298insGATG (hg19)
chr17:g.49973933_49973934insGATG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49973934_49973937dup , CM000679.2:g.49973934_49973937dup | GRCh38 |
| NC_000017.10:g.48051298_48051301dup , CM000679.1:g.48051298_48051301dup | GRCh37 |
| NC_000017.9:g.45406297_45406300dup | NCBI36 |
| NG_030592.1:g.9737_9740dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706528.1:n.1595_1598dup | ||
| ENST00000240306.5:c.714_717dup MANE Select | ENSP00000240306.3:p.Met240AspfsTer? | |
| ENST00000240306.4:c.714_717dup | ENSP00000240306.3:p.Met240AspfsTer? | |
| ENST00000411890.3:c.498_501dup | ENSP00000410622.2:p.Met168AspfsTer? | |
| ENST00000611342.1:c.*584_*587dup | ENSP00000480366.1:n.*584_*587dup | |
| NM_001934.3:c.498_501dup | NP_001925.2:p.Met168AspfsTer? | |
| NM_138281.2:c.714_717dup | NP_612138.1:p.Met240AspfsTer? | |
| XM_011524459.1:c.498_501dup | XP_011522761.1:p.Met168AspfsTer? | |
| XM_017024291.1:c.498_501dup | XP_016879780.1:p.Met168AspfsTer? | |
| NM_138281.3:c.714_717dup MANE Select | NP_612138.1:p.Met240AspfsTer? | |
| NM_001934.4:c.498_501dup | NP_001925.2:p.Met168AspfsTer? |