Linked Data
dbSNP Id:
rs1564442540
gnomAD v2:
10-50732540-G-GTT
gnomAD v4:
10-49524494-G-GTT
MyVariant Identifiers:
chr10:g.50732540_50732541insTT (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49524498_49524499dup , CM000672.2:g.49524498_49524499dup | GRCh38 |
| NC_000010.10:g.50732544_50732545dup , CM000672.1:g.50732544_50732545dup | GRCh37 |
| NC_000010.9:g.50402550_50402551dup | NCBI36 |
| NG_009442.1:g.19606_19607dup , LRG_465:g.19606_19607dup | |
| NG_033155.1:g.4786_4787dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.934_935dup MANE Select | ENSP00000348089.5:p.Asn312LysfsTer18 | |
| ENST00000447839.7:c.934_935dup MANE Plus Clinical | ENSP00000387966.2:p.Asn312LysfsTer18 | |
| ENST00000679596.1:c.*563_*564dup | ENSP00000504862.1:n.*563_*564dup | |
| ENST00000679811.1:n.1017_1018dup | ||
| ENST00000680107.1:c.652+3921_652+3922dup | ENSP00000505909.1:n.652+3921_652+3922dup | |
| ENST00000680233.1:n.1027_1028dup | ||
| ENST00000681632.1:n.1012_1013dup | ||
| ENST00000681659.1:c.934_935dup | ENSP00000505631.1:p.Asn312LysfsTer18 | |
| ENST00000355832.9:c.934_935dup | ENSP00000348089.5:p.Asn312LysfsTer18 | |
| ENST00000447839.6:c.934_935dup | ENSP00000387966.2:p.Asn312LysfsTer18 | |
| ENST00000515869.1:c.934_935dup | ENSP00000423550.1:p.Asn312LysfsTer18 | |
| NM_000124.3:c.934_935dup | NP_000115.1:p.Asn312LysfsTer18 | |
| NM_001277058.1:c.934_935dup | NP_001263987.1:p.Asn312LysfsTer18 | |
| NM_001277059.1:c.934_935dup | NP_001263988.1:p.Asn312LysfsTer18 | |
| NM_001346440.1:c.934_935dup | NP_001333369.1:p.Asn312LysfsTer18 | |
| NM_000124.4:c.934_935dup MANE Select | NP_000115.1:p.Asn312LysfsTer18 | |
| NM_001277058.2:c.934_935dup MANE Plus Clinical | NP_001263987.1:p.Asn312LysfsTer18 | |
| NM_001277059.2:c.934_935dup | NP_001263988.1:p.Asn312LysfsTer18 | |
| NM_001346440.2:c.934_935dup | NP_001333369.1:p.Asn312LysfsTer18 |