Linked Data
dbSNP Id:
rs1159792149
gnomAD v3:
13-46871773-TTAGAAG-T
gnomAD v4:
13-46871773-TTAGAAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.46871779_46871784del , CM000675.2:g.46871779_46871784del | GRCh38 |
| NC_000013.10:g.47445914_47445919del , CM000675.1:g.47445914_47445919del | GRCh37 |
| NC_000013.9:g.46343915_46343920del | NCBI36 |
| NG_013011.1:g.30256_30261del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000542664.4:c.613+20611_613+20616del MANE Select | ENSP00000437737.1:n.613+20611_613+20616de... | |
| ENST00000543956.5:c.124+20611_124+20616del | ENSP00000441861.2:n.124+20611_124+20616de... | |
| ENST00000378688.8:c.613+20611_613+20616del | ENSP00000367959.3:n.613+20611_613+20616de... | |
| ENST00000542664.3:c.613+20611_613+20616del | ENSP00000437737.1:n.613+20611_613+20616de... | |
| ENST00000543956.4:c.361+20611_361+20616del | ENSP00000441861.1:n.361+20611_361+20616de... | |
| NM_000621.4:c.613+20611_613+20616del | NP_000612.1:n.613+20611_613+20616del | |
| NM_001165947.2:c.361+20611_361+20616del | NP_001159419.1:n.361+20611_361+20616del | |
| NM_000621.5:c.613+20611_613+20616del MANE Select | NP_000612.1:n.613+20611_613+20616del | |
| NM_001165947.5:c.124+20611_124+20616del | NP_001159419.2:n.124+20611_124+20616del | |
| NM_001378924.1:c.613+20611_613+20616del | NP_001365853.1:n.613+20611_613+20616del |