Linked Data
ClinVar Variation Id:
200604
ClinVar RCV Id:
RCV000691109
dbSNP Id:
rs551056698
gnomAD v2:
7-150655494-G-GCGCCCGCGC
gnomAD v3:
7-150958406-G-GCGCCCGCGC
gnomAD v4:
7-150958406-G-GCGCCCGCGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150958422_150958430dup , CM000669.2:g.150958422_150958430dup | GRCh38 |
| NC_000007.13:g.150655510_150655518dup , CM000669.1:g.150655510_150655518dup | GRCh37 |
| NC_000007.12:g.150286443_150286451dup | NCBI36 |
| NG_008916.1:g.24512_24520dup , LRG_288:g.24512_24520dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684241.1:n.1393_1401dup | ||
| ENST00000262186.10:c.560_568dup MANE Select | ENSP00000262186.5:p.Gly189_Ala190insGlyAl... | |
| ENST00000262186.9:c.560_568dup | ENSP00000262186.5:p.Gly189_Ala190insGlyAl... | |
| ENST00000430723.4:c.235-23_235-15dup | ENSP00000387657.4:n.235-23_235-15dup | |
| ENST00000532957.5:n.783_791dup | ||
| NM_000238.3:c.560_568dup , LRG_288t1:c.560_568dup | NP_000229.1:p.Gly189_Ala190insGlyAlaGly | |
| NM_172056.2:c.560_568dup , LRG_288t2:c.560_568dup | NP_742053.1:p.Gly189_Ala190insGlyAlaGly | |
| XM_011516185.1:c.260_268dup | XP_011514487.1:p.Gly89_Ala90insGlyAlaGly | |
| XM_011516186.1:c.560_568dup | XP_011514488.1:p.Gly189_Ala190insGlyAlaGl... | |
| XM_011516185.2:c.260_268dup | XP_011514487.1:p.Gly89_Ala90insGlyAlaGly | |
| XM_011516186.3:c.560_568dup | XP_011514488.1:p.Gly189_Ala190insGlyAlaGl... | |
| XM_017012195.1:c.410_418dup | XP_016867684.1:p.Gly139_Ala140insGlyAlaGl... | |
| XM_017012196.1:c.383_391dup | XP_016867685.1:p.Gly130_Ala131insGlyAlaGl... | |
| NM_000238.4:c.560_568dup MANE Select | NP_000229.1:p.Gly189_Ala190insGlyAlaGly |