Linked Data
ClinVar Variation Id:
200600
ClinVar RCV Id:
RCV000181957
RCV000239172
RCV000247712
RCV000584789
RCV000590741
RCV000768245
RCV001080836
dbSNP Id:
rs551056698
gnomAD v2:
7-150655494-GCGCCCGCGC-G
gnomAD v3:
7-150958406-GCGCCCGCGC-G
gnomAD v4:
7-150958406-GCGCCCGCGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150958422_150958430del , CM000669.2:g.150958422_150958430del | GRCh38 |
| NC_000007.13:g.150655510_150655518del , CM000669.1:g.150655510_150655518del | GRCh37 |
| NC_000007.12:g.150286443_150286451del | NCBI36 |
| NG_008916.1:g.24512_24520del , LRG_288:g.24512_24520del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684241.1:n.1393_1401del | ||
| ENST00000262186.10:c.560_568del MANE Select | ENSP00000262186.5:p.Gly187_Gly189del | |
| ENST00000262186.9:c.560_568del | ENSP00000262186.5:p.Gly187_Gly189del | |
| ENST00000430723.4:c.235-23_235-15del | ENSP00000387657.4:n.235-23_235-15del | |
| ENST00000532957.5:n.783_791del | ||
| NM_000238.3:c.560_568del , LRG_288t1:c.560_568del | NP_000229.1:p.Gly187_Gly189del | |
| NM_172056.2:c.560_568del , LRG_288t2:c.560_568del | NP_742053.1:p.Gly187_Gly189del | |
| XM_011516185.1:c.260_268del | XP_011514487.1:p.Gly87_Gly89del | |
| XM_011516186.1:c.560_568del | XP_011514488.1:p.Gly187_Gly189del | |
| XM_011516185.2:c.260_268del | XP_011514487.1:p.Gly87_Gly89del | |
| XM_011516186.3:c.560_568del | XP_011514488.1:p.Gly187_Gly189del | |
| XM_017012195.1:c.410_418del | XP_016867684.1:p.Gly137_Gly139del | |
| XM_017012196.1:c.383_391del | XP_016867685.1:p.Gly128_Gly130del | |
| NM_000238.4:c.560_568del MANE Select | NP_000229.1:p.Gly187_Gly189del |