Linked Data
ClinVar Variation Id:
1401932
ClinVar RCV Id:
RCV001913236
dbSNP Id:
rs1462985500
gnomAD v2:
16-2096234-GTCCTGGGGC-G
gnomAD v4:
16-2046233-GTCCTGGGGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2046237_2046245del , CM000678.2:g.2046237_2046245del | GRCh38 |
| NC_000016.9:g.2096238_2096246del , CM000678.1:g.2096238_2096246del | GRCh37 |
| NC_000016.8:g.2036239_2036247del | NCBI36 |
| NG_005895.1:g.1932_1940del , LRG_487:g.1932_1940del | |
| NG_008412.1:g.6625_6633del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651570.2:c.240_248del MANE Select | ENSP00000498421.1:p.Glu80_Gln82del | |
| ENST00000651583.1:c.195_203del | ENSP00000498821.1:p.Glu65_Gln67del | |
| ENST00000219066.5:c.264_272del | ENSP00000219066.1:p.Glu88_Gln90del | |
| ENST00000561841.1:c.160_168del | ||
| ENST00000566380.5:c.203_211del | ||
| ENST00000568513.5:c.173+38_173+46del | ||
| NM_002528.5:c.264_272del | NP_002519.1:p.Glu88_Gln90del | |
| XM_011522505.1:c.264_272del | XP_011520807.1:p.Glu88_Gln90del | |
| NM_001318193.1:c.264_272del | NP_001305122.1:p.Glu88_Gln90del | |
| NM_001318194.1:c.24+38_24+46del | NP_001305123.1:n.24+38_24+46del | |
| NM_002528.6:c.264_272del | NP_002519.1:p.Glu88_Gln90del | |
| XM_017023253.1:c.264_272del | XP_016878742.1:p.Glu88_Gln90del | |
| NM_001318193.2:c.240_248del | NP_001305122.2:p.Glu80_Gln82del | |
| NM_002528.7:c.240_248del MANE Select | NP_002519.2:p.Glu80_Gln82del | |
| NM_001318194.2:c.24+38_24+46del | NP_001305123.1:n.24+38_24+46del |