Linked Data
dbSNP Id:
rs2043544817
gnomAD v3:
15-48490035-CTCCTCG-C
gnomAD v4:
15-48490035-CTCCTCG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48490043_48490048del , CM000677.2:g.48490043_48490048del | GRCh38 |
| NC_000015.9:g.48782240_48782245del , CM000677.1:g.48782240_48782245del | GRCh37 |
| NC_000015.8:g.46569532_46569537del | NCBI36 |
| NG_008805.2:g.160748_160753del , LRG_778:g.160748_160753del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.2892_2897del | ENSP00000453958.2:p.Asp964_Glu965del | |
| ENST00000674301.2:c.2892_2897del | ENSP00000501333.2:p.Asp964_Glu965del | |
| ENST00000684448.1:n.1566_1571del | ||
| ENST00000316623.10:c.2892_2897del MANE Select | ENSP00000325527.5:p.Asp964_Glu965del | |
| ENST00000316623.9:c.2892_2897del | ENSP00000325527.5:p.Asp964_Glu965del | |
| ENST00000537463.6:c.637-15391_637-15386del | ENSP00000440294.2:n.637-15391_637-15386del | |
| NM_000138.4:c.2892_2897del , LRG_778t1:c.2892_2897del | NP_000129.3:p.Asp964_Glu965del | |
| NM_000138.5:c.2892_2897del MANE Select | NP_000129.3:p.Asp964_Glu965del |