Linked Data
ClinVar Variation Id:
429496
ClinVar RCV Id:
RCV000492849
dbSNP Id:
rs1131691413
gnomAD v2:
X-70598131-GAGATAT-G
gnomAD v3:
X-71378281-GAGATAT-G
gnomAD v4:
X-71378281-GAGATAT-G
COSMIC:
COSM20998
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71378287_71378292del , CM000685.2:g.71378287_71378292del | GRCh38 |
| NC_000023.10:g.70598137_70598142del , CM000685.1:g.70598137_70598142del | GRCh37 |
| NC_000023.9:g.70514862_70514867del | NCBI36 |
| NG_012771.2:g.17024_17029del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276072.9:c.272_277del | ENSP00000276072.5:p.Ile91_Asp92del | |
| ENST00000683202.1:c.986_991del | ENSP00000507781.1:p.Ile329_Asp330del | |
| ENST00000683352.1:n.1056_1061del | ||
| ENST00000683668.1:c.272_277del | ENSP00000507280.1:p.Ile91_Asp92del | |
| ENST00000683715.1:c.567_572del | ||
| ENST00000683782.1:c.986_991del | ENSP00000506996.1:p.Ile329_Asp330del | |
| ENST00000373790.9:c.923_928del | ENSP00000362895.5:p.Ile308_Asp309del | |
| ENST00000423759.6:c.986_991del MANE Select | ENSP00000406549.2:p.Ile329_Asp330del | |
| ENST00000276072.7:c.1046_1051del | ENSP00000276072.3:p.Ile349_Asp350del | |
| ENST00000373790.8:c.983_988del | ENSP00000362895.4:p.Ile328_Asp329del | |
| ENST00000423759.5:c.1046_1051del | ENSP00000406549.1:p.Ile349_Asp350del | |
| NM_001286074.1:c.1046_1051del | NP_001273003.1:p.Ile349_Asp350del | |
| NM_004606.4:c.1046_1051del | NP_004597.2:p.Ile349_Asp350del | |
| NM_138923.3:c.983_988del | NP_620278.1:p.Ile328_Asp329del | |
| NR_104387.1:n.1122_1127del | ||
| NR_104388.1:n.1122_1127del | ||
| NR_104389.1:n.1122_1127del | ||
| NR_104390.1:n.1122_1127del | ||
| NR_104391.1:n.1122_1127del | ||
| NR_104392.1:n.1122_1127del | ||
| NR_104393.1:n.1122_1127del | ||
| NR_104394.1:n.1122_1127del | ||
| NR_104395.1:n.1122_1127del | ||
| XM_005262295.1:c.1046_1051del | XP_005262352.1:p.Ile349_Asp350del | |
| XM_005262296.1:c.1046_1051del | XP_005262353.1:p.Ile349_Asp350del | |
| XM_005262297.3:c.983_988del | XP_005262354.1:p.Ile328_Asp329del | |
| XM_005262300.1:c.1046_1051del | XP_005262357.1:p.Ile349_Asp350del | |
| XM_006724682.2:c.665_670del | XP_006724745.1:p.Ile222_Asp223del | |
| XM_011531016.1:c.1046_1051del | XP_011529318.1:p.Ile349_Asp350del | |
| XR_938407.1:n.1056_1061del | ||
| XM_005262297.4:c.983_988del | XP_005262354.1:p.Ile328_Asp329del | |
| XM_005262300.2:c.1046_1051del | XP_005262357.1:p.Ile349_Asp350del | |
| XM_024452429.1:c.665_670del | XP_024308197.1:p.Ile222_Asp223del | |
| XM_024452430.1:c.1046_1051del | XP_024308198.1:p.Ile349_Asp350del | |
| NM_001286074.2:c.986_991del | NP_001273003.2:p.Ile329_Asp330del | |
| NM_004606.5:c.986_991del MANE Select | NP_004597.3:p.Ile329_Asp330del | |
| NM_138923.4:c.923_928del | NP_620278.2:p.Ile308_Asp309del | |
| NR_104387.2:n.1004_1009del | ||
| NR_104388.2:n.1004_1009del | ||
| NR_104389.2:n.1004_1009del | ||
| NR_104390.2:n.1004_1009del | ||
| NR_104391.2:n.1004_1009del | ||
| NR_104392.2:n.1004_1009del | ||
| NR_104393.2:n.1004_1009del | ||
| NR_104394.2:n.1004_1009del | ||
| NR_104395.2:n.1004_1009del |