Linked Data
dbSNP Id:
rs749018009
gnomAD v2:
19-45411044-T-TGGAGACAGAGCC
gnomAD v3:
19-44907787-T-TGGAGACAGAGCC
gnomAD v4:
19-44907787-T-TGGAGACAGAGCC
MyVariant Identifiers:
chr19:g.45411044_45411045insGGAGACAGAGCC (hg19)
chr19:g.44907787_44907788insGGAGACAGAGCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44907792_44907803dup , CM000681.2:g.44907792_44907803dup | GRCh38 |
| NC_000019.9:g.45411049_45411060dup , CM000681.1:g.45411049_45411060dup | GRCh37 |
| NC_000019.8:g.50102889_50102900dup | NCBI36 |
| NG_007084.2:g.7011_7022dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252486.9:c.76_87dup MANE Select | ENSP00000252486.3:p.Glu29_Pro30insThrGluProGlu | |
| ENST00000252486.8:c.76_87dup | ENSP00000252486.3:p.Glu29_Pro30insThrGluProGlu | |
| ENST00000425718.1:c.76_87dup | ENSP00000410423.1:p.Glu29_Pro30insThrGluProGlu | |
| ENST00000434152.5:c.154_165dup | ENSP00000413653.2:p.Glu55_Pro56insThrGluProGlu | |
| ENST00000446996.5:c.76_87dup | ENSP00000413135.1:p.Glu29_Pro30insThrGluProGlu | |
| NM_000041.3:c.76_87dup | NP_000032.1:p.Glu29_Pro30insThrGluProGlu | |
| NM_001302688.1:c.154_165dup | NP_001289617.1:p.Glu55_Pro56insThrGluProGlu | |
| NM_001302689.1:c.76_87dup | NP_001289618.1:p.Glu29_Pro30insThrGluProGlu | |
| NM_001302690.1:c.76_87dup | NP_001289619.1:p.Glu29_Pro30insThrGluProGlu | |
| NM_001302691.1:c.76_87dup | NP_001289620.1:p.Glu29_Pro30insThrGluProGlu | |
| NM_000041.4:c.76_87dup MANE Select | NP_000032.1:p.Glu29_Pro30insThrGluProGlu | |
| NM_001302688.2:c.154_165dup | NP_001289617.1:p.Glu55_Pro56insThrGluProGlu | |
| NM_001302689.2:c.76_87dup | NP_001289618.1:p.Glu29_Pro30insThrGluProGlu | |
| NM_001302691.2:c.76_87dup | NP_001289620.1:p.Glu29_Pro30insThrGluProGlu | |
| NM_001302690.2:c.76_87dup | NP_001289619.1:p.Glu29_Pro30insThrGluProGlu |