Linked Data
ClinVar Variation Id:
1004585
ClinVar RCV Id:
RCV001301310
dbSNP Id:
rs1803269290
gnomAD v4:
7-100626825-TCTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100626828_100626830del , CM000669.2:g.100626828_100626830del | GRCh38 |
| NC_000007.13:g.100224451_100224453del , CM000669.1:g.100224451_100224453del | GRCh37 |
| NC_000007.12:g.100062387_100062389del | NCBI36 |
| NG_007989.1:g.19723_19725del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000223051.8:c.2071_2073del MANE Select | ENSP00000223051.3:p.Glu691del | |
| ENST00000223051.7:c.2071_2073del | ENSP00000223051.3:p.Glu691del | |
| ENST00000431692.5:c.*746_*748del | ENSP00000413905.1:n.*746_*748del | |
| ENST00000461176.1:n.417_419del | ||
| ENST00000462090.5:n.1107_1109del | ||
| ENST00000462107.1:c.2071_2073del | ENSP00000420525.1:p.Glu691del | |
| ENST00000465294.5:n.1991_1993del | ||
| ENST00000476304.5:n.1692_1694del | ||
| ENST00000490084.5:c.1424_1426del | ||
| NM_001206855.1:c.1558_1560del | NP_001193784.1:p.Glu520del | |
| NM_003227.3:c.2071_2073del | NP_003218.2:p.Glu691del | |
| XM_005250553.3:c.2071_2073del | XP_005250610.1:p.Glu691del | |
| XM_005250554.3:c.2071_2073del | XP_005250611.1:p.Glu691del | |
| XR_927814.1:n.433+4274_433+4276del | ||
| NM_001206855.2:c.1558_1560del | NP_001193784.1:p.Glu520del | |
| XM_005250553.4:c.2071_2073del | XP_005250610.1:p.Glu691del | |
| XM_017012573.1:c.2071_2073del | XP_016868062.1:p.Glu691del | |
| NM_003227.4:c.2071_2073del MANE Select | NP_003218.2:p.Glu691del | |
| NM_001206855.3:c.1558_1560del | NP_001193784.1:p.Glu520del |