Linked Data
dbSNP Id:
rs749916567
ExAC:
7:99696218 TCTC / T
gnomAD v2:
7-99696218-TCTC-T
gnomAD v3:
7-100098595-TCTC-T
gnomAD v4:
7-100098595-TCTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100098598_100098600del , CM000669.2:g.100098598_100098600del | GRCh38 |
| NC_000007.13:g.99696221_99696223del , CM000669.1:g.99696221_99696223del | GRCh37 |
| NC_000007.12:g.99534157_99534159del | NCBI36 |
| NG_016312.1:g.2092_2094del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425308.6:c.379_381del | ENSP00000411295.2:p.Glu127del | |
| ENST00000485286.6:n.1312_1314del | ||
| ENST00000489841.6:n.1421_1423del | ||
| ENST00000710813.1:c.379_381del | ENSP00000518500.1:p.Glu127del | |
| ENST00000710814.1:c.379_381del | ENSP00000518501.1:p.Glu127del | |
| ENST00000710815.1:c.379_381del | ENSP00000518502.1:p.Glu127del | |
| ENST00000303887.10:c.700_702del MANE Select | ENSP00000307288.5:p.Glu234del | |
| ENST00000303887.9:c.700_702del | ENSP00000307288.5:p.Glu234del | |
| ENST00000343023.10:c.700_702del | ENSP00000344006.6:p.Glu234del | |
| ENST00000354230.7:c.172_174del | ENSP00000346171.3:p.Glu58del | |
| ENST00000425308.5:c.379_381del | ENSP00000411295.1:p.Glu127del | |
| ENST00000463722.5:n.1075_1077del | ||
| ENST00000485286.5:n.1289_1291del | ||
| ENST00000489841.5:n.851_853del | ||
| ENST00000491245.6:c.85+1055_85+1057del | ||
| ENST00000621318.4:c.172_174del | ENSP00000483795.1:p.Glu58del | |
| NM_001278595.1:c.172_174del | NP_001265524.1:p.Glu58del | |
| NM_005916.4:c.700_702del | NP_005907.3:p.Glu234del | |
| NM_182776.2:c.172_174del | NP_877577.1:p.Glu58del | |
| XM_005250348.2:c.379_381del | XP_005250405.1:p.Glu127del | |
| XM_005250348.3:c.379_381del | XP_005250405.1:p.Glu127del | |
| XM_017012217.2:c.379_381del | XP_016867706.1:p.Glu127del | |
| NM_001278595.2:c.172_174del | NP_001265524.1:p.Glu58del | |
| NM_005916.5:c.700_702del MANE Select | NP_005907.3:p.Glu234del | |
| NM_182776.3:c.172_174del | NP_877577.1:p.Glu58del |