Linked Data
ClinVar Variation Id:
6669
dbSNP Id:
rs786200896
MyVariant Identifiers:
chr2:g.71887767_71887771delinsCCCC (hg19)
chr2:g.71660637_71660641delinsCCCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71660637_71660641delinsCCCC , CM000664.2:g.71660637_71660641delinsCCCC | GRCh38 |
| NC_000002.11:g.71887767_71887771delinsCCCC , CM000664.1:g.71887767_71887771delinsCCCC | GRCh37 |
| NC_000002.10:g.71741275_71741279delinsCCCC | NCBI36 |
| NG_008694.1:g.212015_212019delinsCCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698057.1:c.2403_2407delinsCCCC | ENSP00000513536.1:p.Glu801AspfsTer10 | |
| ENST00000698058.1:c.1620_1624delinsCCCC | ENSP00000513537.1:p.Glu540AspfsTer10 | |
| ENST00000698059.1:c.1728_1732delinsCCCC | ENSP00000513538.1:p.Glu576AspfsTer10 | |
| ENST00000258104.8:c.4872_4876delinsCCCC MANE Plus Clinical | ENSP00000258104.3:p.Glu1624AspfsTer10 | |
| ENST00000410020.8:c.4989_4993delinsCCCC MANE Select | ENSP00000386881.3:p.Glu1663AspfsTer10 | |
| ENST00000258104.7:c.4872_4876delinsCCCC | ENSP00000258104.3:p.Glu1624AspfsTer10 | |
| ENST00000394120.6:c.4875_4879delinsCCCC | ENSP00000377678.2:p.Glu1625AspfsTer10 | |
| ENST00000409366.5:c.4938_4942delinsCCCC | ENSP00000386512.1:p.Glu1646AspfsTer10 | |
| ENST00000409582.7:c.4986_4990delinsCCCC | ENSP00000386547.3:p.Glu1662AspfsTer10 | |
| ENST00000409651.5:c.4968_4972delinsCCCC | ENSP00000386683.1:p.Glu1656AspfsTer10 | |
| ENST00000409744.5:c.4896_4900delinsCCCC | ENSP00000386285.1:p.Glu1632AspfsTer10 | |
| ENST00000409762.5:c.4923_4927delinsCCCC | ENSP00000387137.1:p.Glu1641AspfsTer10 | |
| ENST00000410020.7:c.4989_4993delinsCCCC | ENSP00000386881.3:p.Glu1663AspfsTer10 | |
| ENST00000410041.1:c.4926_4930delinsCCCC | ENSP00000386617.1:p.Glu1642AspfsTer10 | |
| ENST00000413539.6:c.4965_4969delinsCCCC | ENSP00000407046.2:p.Glu1655AspfsTer10 | |
| ENST00000429174.6:c.4935_4939delinsCCCC | ENSP00000398305.2:p.Glu1645AspfsTer10 | |
| ENST00000479049.6:n.1757_1761delinsCCCC | ||
| NM_001130455.1:c.4875_4879delinsCCCC | NP_001123927.1:p.Glu1625AspfsTer10 | |
| NM_001130976.1:c.4830_4834delinsCCCC | NP_001124448.1:p.Glu1610AspfsTer10 | |
| NM_001130977.1:c.4893_4897delinsCCCC | NP_001124449.1:p.Glu1631AspfsTer10 | |
| NM_001130978.1:c.4935_4939delinsCCCC | NP_001124450.1:p.Glu1645AspfsTer10 | |
| NM_001130979.1:c.4965_4969delinsCCCC | NP_001124451.1:p.Glu1655AspfsTer10 | |
| NM_001130980.1:c.4923_4927delinsCCCC | NP_001124452.1:p.Glu1641AspfsTer10 | |
| NM_001130981.1:c.4986_4990delinsCCCC | NP_001124453.1:p.Glu1662AspfsTer10 | |
| NM_001130982.1:c.4968_4972delinsCCCC | NP_001124454.1:p.Glu1656AspfsTer10 | |
| NM_001130983.1:c.4938_4942delinsCCCC | NP_001124455.1:p.Glu1646AspfsTer10 | |
| NM_001130984.1:c.4896_4900delinsCCCC | NP_001124456.1:p.Glu1632AspfsTer10 | |
| NM_001130985.1:c.4926_4930delinsCCCC | NP_001124457.1:p.Glu1642AspfsTer10 | |
| NM_001130986.1:c.4833_4837delinsCCCC | NP_001124458.1:p.Glu1611AspfsTer10 | |
| NM_001130987.1:c.4989_4993delinsCCCC | NP_001124459.1:p.Glu1663AspfsTer10 | |
| NM_003494.3:c.4872_4876delinsCCCC | NP_003485.1:p.Glu1624AspfsTer10 | |
| XM_005264584.3:c.5031_5035delinsCCCC | XP_005264641.1:p.Glu1677AspfsTer10 | |
| XM_005264585.3:c.5028_5032delinsCCCC | XP_005264642.1:p.Glu1676AspfsTer10 | |
| XM_005264584.4:c.5031_5035delinsCCCC | XP_005264641.1:p.Glu1677AspfsTer10 | |
| XM_005264585.5:c.5028_5032delinsCCCC | XP_005264642.1:p.Glu1676AspfsTer10 | |
| XR_001738969.1:n.5189_5193delinsCCCC | ||
| NM_001130987.2:c.4989_4993delinsCCCC MANE Select | NP_001124459.1:p.Glu1663AspfsTer10 | |
| NM_001130455.2:c.4875_4879delinsCCCC | NP_001123927.1:p.Glu1625AspfsTer10 | |
| NM_001130976.2:c.4830_4834delinsCCCC | NP_001124448.1:p.Glu1610AspfsTer10 | |
| NM_001130977.2:c.4893_4897delinsCCCC | NP_001124449.1:p.Glu1631AspfsTer10 | |
| NM_001130978.2:c.4935_4939delinsCCCC | NP_001124450.1:p.Glu1645AspfsTer10 | |
| NM_001130979.2:c.4965_4969delinsCCCC | NP_001124451.1:p.Glu1655AspfsTer10 | |
| NM_001130980.2:c.4923_4927delinsCCCC | NP_001124452.1:p.Glu1641AspfsTer10 | |
| NM_001130981.2:c.4986_4990delinsCCCC | NP_001124453.1:p.Glu1662AspfsTer10 | |
| NM_001130982.2:c.4968_4972delinsCCCC | NP_001124454.1:p.Glu1656AspfsTer10 | |
| NM_001130983.2:c.4938_4942delinsCCCC | NP_001124455.1:p.Glu1646AspfsTer10 | |
| NM_001130984.2:c.4896_4900delinsCCCC | NP_001124456.1:p.Glu1632AspfsTer10 | |
| NM_001130985.2:c.4926_4930delinsCCCC | NP_001124457.1:p.Glu1642AspfsTer10 | |
| NM_001130986.2:c.4833_4837delinsCCCC | NP_001124458.1:p.Glu1611AspfsTer10 | |
| NM_003494.4:c.4872_4876delinsCCCC MANE Plus Clinical | NP_003485.1:p.Glu1624AspfsTer10 |