Linked Data
dbSNP Id:
rs1444938298
gnomAD v2:
2-71896159-TGCTTCTTG-T
gnomAD v3:
2-71669029-TGCTTCTTG-T
gnomAD v4:
2-71669029-TGCTTCTTG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71669045_71669052del , CM000664.2:g.71669045_71669052del | GRCh38 |
| NC_000002.11:g.71896175_71896182del , CM000664.1:g.71896175_71896182del | GRCh37 |
| NC_000002.10:g.71749683_71749690del | NCBI36 |
| NG_008694.1:g.220423_220430del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698057.1:c.2961-67_2961-60del | ENSP00000513536.1:n.2961-67_2961-60del | |
| ENST00000698058.1:c.2178-67_2178-60del | ENSP00000513537.1:n.2178-67_2178-60del | |
| ENST00000698059.1:c.2286-67_2286-60del | ENSP00000513538.1:n.2286-67_2286-60del | |
| ENST00000258104.8:c.5430-67_5430-60del MANE Plus Clinical | ENSP00000258104.3:n.5430-67_5430-60del | |
| ENST00000410020.8:c.5547-67_5547-60del MANE Select | ENSP00000386881.3:n.5547-67_5547-60del | |
| ENST00000258104.7:c.5430-67_5430-60del | ENSP00000258104.3:n.5430-67_5430-60del | |
| ENST00000394120.6:c.5433-67_5433-60del | ENSP00000377678.2:n.5433-67_5433-60del | |
| ENST00000409366.5:c.5496-67_5496-60del | ENSP00000386512.1:n.5496-67_5496-60del | |
| ENST00000409582.7:c.5544-67_5544-60del | ENSP00000386547.3:n.5544-67_5544-60del | |
| ENST00000409651.5:c.5526-67_5526-60del | ENSP00000386683.1:n.5526-67_5526-60del | |
| ENST00000409744.5:c.5454-67_5454-60del | ENSP00000386285.1:n.5454-67_5454-60del | |
| ENST00000409762.5:c.5481-67_5481-60del | ENSP00000387137.1:n.5481-67_5481-60del | |
| ENST00000410020.7:c.5547-67_5547-60del | ENSP00000386881.3:n.5547-67_5547-60del | |
| ENST00000410041.1:c.5484-67_5484-60del | ENSP00000386617.1:n.5484-67_5484-60del | |
| ENST00000413539.6:c.5523-67_5523-60del | ENSP00000407046.2:n.5523-67_5523-60del | |
| ENST00000429174.6:c.5493-67_5493-60del | ENSP00000398305.2:n.5493-67_5493-60del | |
| ENST00000479049.6:n.2315-67_2315-60del | ||
| NM_001130455.1:c.5433-67_5433-60del | NP_001123927.1:n.5433-67_5433-60del | |
| NM_001130976.1:c.5388-67_5388-60del | NP_001124448.1:n.5388-67_5388-60del | |
| NM_001130977.1:c.5451-67_5451-60del | NP_001124449.1:n.5451-67_5451-60del | |
| NM_001130978.1:c.5493-67_5493-60del | NP_001124450.1:n.5493-67_5493-60del | |
| NM_001130979.1:c.5523-67_5523-60del | NP_001124451.1:n.5523-67_5523-60del | |
| NM_001130980.1:c.5481-67_5481-60del | NP_001124452.1:n.5481-67_5481-60del | |
| NM_001130981.1:c.5544-67_5544-60del | NP_001124453.1:n.5544-67_5544-60del | |
| NM_001130982.1:c.5526-67_5526-60del | NP_001124454.1:n.5526-67_5526-60del | |
| NM_001130983.1:c.5496-67_5496-60del | NP_001124455.1:n.5496-67_5496-60del | |
| NM_001130984.1:c.5454-67_5454-60del | NP_001124456.1:n.5454-67_5454-60del | |
| NM_001130985.1:c.5484-67_5484-60del | NP_001124457.1:n.5484-67_5484-60del | |
| NM_001130986.1:c.5391-67_5391-60del | NP_001124458.1:n.5391-67_5391-60del | |
| NM_001130987.1:c.5547-67_5547-60del | NP_001124459.1:n.5547-67_5547-60del | |
| NM_003494.3:c.5430-67_5430-60del | NP_003485.1:n.5430-67_5430-60del | |
| XM_005264584.3:c.5589-67_5589-60del | XP_005264641.1:n.5589-67_5589-60del | |
| XM_005264585.3:c.5586-67_5586-60del | XP_005264642.1:n.5586-67_5586-60del | |
| XM_005264584.4:c.5589-67_5589-60del | XP_005264641.1:n.5589-67_5589-60del | |
| XM_005264585.5:c.5586-67_5586-60del | XP_005264642.1:n.5586-67_5586-60del | |
| NM_001130987.2:c.5547-67_5547-60del MANE Select | NP_001124459.1:n.5547-67_5547-60del | |
| NM_001130455.2:c.5433-67_5433-60del | NP_001123927.1:n.5433-67_5433-60del | |
| NM_001130976.2:c.5388-67_5388-60del | NP_001124448.1:n.5388-67_5388-60del | |
| NM_001130977.2:c.5451-67_5451-60del | NP_001124449.1:n.5451-67_5451-60del | |
| NM_001130978.2:c.5493-67_5493-60del | NP_001124450.1:n.5493-67_5493-60del | |
| NM_001130979.2:c.5523-67_5523-60del | NP_001124451.1:n.5523-67_5523-60del | |
| NM_001130980.2:c.5481-67_5481-60del | NP_001124452.1:n.5481-67_5481-60del | |
| NM_001130981.2:c.5544-67_5544-60del | NP_001124453.1:n.5544-67_5544-60del | |
| NM_001130982.2:c.5526-67_5526-60del | NP_001124454.1:n.5526-67_5526-60del | |
| NM_001130983.2:c.5496-67_5496-60del | NP_001124455.1:n.5496-67_5496-60del | |
| NM_001130984.2:c.5454-67_5454-60del | NP_001124456.1:n.5454-67_5454-60del | |
| NM_001130985.2:c.5484-67_5484-60del | NP_001124457.1:n.5484-67_5484-60del | |
| NM_001130986.2:c.5391-67_5391-60del | NP_001124458.1:n.5391-67_5391-60del | |
| NM_003494.4:c.5430-67_5430-60del MANE Plus Clinical | NP_003485.1:n.5430-67_5430-60del |