Linked Data
ClinVar Variation Id:
1273290
ClinVar RCV Id:
RCV001679113
dbSNP Id:
rs35884842
gnomAD v2:
13-28602226-AAG-A
gnomAD v3:
13-28028089-AAG-A
gnomAD v4:
13-28028089-AAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28028110_28028111del , CM000675.2:g.28028110_28028111del | GRCh38 |
| NC_000013.10:g.28602247_28602248del , CM000675.1:g.28602247_28602248del | GRCh37 |
| NC_000013.9:g.27500247_27500248del | NCBI36 |
| NG_007066.1:g.77478_77479del , LRG_457:g.77478_77479del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241453.12:c.2053+87_2053+88del MANE Select | ENSP00000241453.7:n.2053+87_2053+88del | |
| ENST00000241453.11:c.2053+87_2053+88del | ENSP00000241453.7:n.2053+87_2053+88del | |
| ENST00000380987.2:c.2053+87_2053+88del | ENSP00000370374.2:n.2053+87_2053+88del | |
| NM_004119.2:c.2053+87_2053+88del , LRG_457t1:c.2053+87_2053+88del | NP_004110.2:n.2053+87_2053+88del | |
| NR_130706.1:n.2135+87_2135+88del | ||
| XM_011535015.1:c.1996+87_1996+88del | XP_011533317.1:n.1996+87_1996+88del | |
| XM_011535016.1:c.1528+87_1528+88del | XP_011533318.1:n.1528+87_1528+88del | |
| XM_011535017.1:c.1528+87_1528+88del | XP_011533319.1:n.1528+87_1528+88del | |
| XM_011535018.1:c.1528+87_1528+88del | XP_011533320.1:n.1528+87_1528+88del | |
| XM_011535015.2:c.1996+87_1996+88del | XP_011533317.1:n.1996+87_1996+88del | |
| XM_011535017.2:c.1528+87_1528+88del | XP_011533319.1:n.1528+87_1528+88del | |
| XM_011535018.2:c.1528+87_1528+88del | XP_011533320.1:n.1528+87_1528+88del | |
| XM_017020486.1:c.1837+87_1837+88del | XP_016875975.1:n.1837+87_1837+88del | |
| XM_017020487.1:c.1528+87_1528+88del | XP_016875976.1:n.1528+87_1528+88del | |
| XM_017020488.1:c.1174+87_1174+88del | XP_016875977.1:n.1174+87_1174+88del | |
| XM_017020489.1:c.1156+87_1156+88del | XP_016875978.1:n.1156+87_1156+88del | |
| NM_004119.3:c.2053+87_2053+88del MANE Select | NP_004110.2:n.2053+87_2053+88del | |
| NR_130706.2:n.2119+87_2119+88del |