Linked Data
ClinVar Variation Id:
2856892
ClinVar RCV Id:
RCV003763338
dbSNP Id:
rs1438952536
gnomAD v2:
7-116411723-CTG-C
gnomAD v4:
7-116771669-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116771671_116771672del , CM000669.2:g.116771671_116771672del | GRCh38 |
| NC_000007.13:g.116411725_116411726del , CM000669.1:g.116411725_116411726del | GRCh37 |
| NC_000007.12:g.116198961_116198962del | NCBI36 |
| NG_008996.1:g.104267_104268del , LRG_662:g.104267_104268del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436117.3:c.*492+17_*492+18del | ENSP00000410980.2:n.*492+17_*492+18del | |
| ENST00000318493.11:c.2941+17_2941+18del | ENSP00000317272.6:n.2941+17_2941+18del | |
| ENST00000397752.8:c.2887+17_2887+18del MANE Select | ENSP00000380860.3:n.2887+17_2887+18del | |
| ENST00000318493.10:c.2941+17_2941+18del | ENSP00000317272.6:n.2941+17_2941+18del | |
| ENST00000397752.7:c.2887+17_2887+18del | ENSP00000380860.3:n.2887+17_2887+18del | |
| ENST00000454623.1:c.283+17_283+18del | ENSP00000398140.1:n.283+17_283+18del | |
| NM_000245.2:c.2887+17_2887+18del | NP_000236.2:n.2887+17_2887+18del | |
| NM_001127500.1:c.2941+17_2941+18del , LRG_662t1:c.2941+17_2941+18del | NP_001120972.1:n.2941+17_2941+18del | |
| XM_006715990.2:c.1597+17_1597+18del | XP_006716053.1:n.1597+17_1597+18del | |
| XM_006715991.2:c.1597+17_1597+18del | XP_006716054.1:n.1597+17_1597+18del | |
| XM_011516223.1:c.2944+17_2944+18del | XP_011514525.1:n.2944+17_2944+18del | |
| NM_000245.3:c.2887+17_2887+18del | NP_000236.2:n.2887+17_2887+18del | |
| NM_001127500.2:c.2941+17_2941+18del | NP_001120972.1:n.2941+17_2941+18del | |
| NM_001324402.1:c.1597+17_1597+18del | NP_001311331.1:n.1597+17_1597+18del | |
| XR_001744772.1:n.3018+17_3018+18del | ||
| NM_001127500.3:c.2941+17_2941+18del | NP_001120972.1:n.2941+17_2941+18del | |
| NM_000245.4:c.2887+17_2887+18del MANE Select | NP_000236.2:n.2887+17_2887+18del | |
| NM_001324402.2:c.1597+17_1597+18del | NP_001311331.1:n.1597+17_1597+18del |