Linked Data
dbSNP Id:
rs1564820699
gnomAD v2:
11-2593199-GA-G
gnomAD v4:
11-2571969-GA-G
MyVariant Identifiers:
chr11:g.2593200del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2571970del , CM000673.2:g.2571970del | GRCh38 |
| NC_000011.9:g.2593200del , CM000673.1:g.2593200del | GRCh37 |
| NC_000011.8:g.2549776del | NCBI36 |
| NG_008935.1:g.131980del , LRG_287:g.131980del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.423-43del | ENSP00000434560.2:n.423-43del | |
| ENST00000646564.2:c.478-11465del | ENSP00000495806.2:n.478-11465del | |
| ENST00000155840.12:c.684-43del MANE Select | ENSP00000155840.2:n.684-43del | |
| ENST00000335475.6:c.303-43del | ENSP00000334497.5:n.303-43del | |
| ENST00000646564.1:c.124-11465del | ENSP00000495806.1:n.124-11465del | |
| ENST00000155840.9:c.684-43del | ENSP00000155840.2:n.684-43del | |
| ENST00000335475.5:c.303-43del | ENSP00000334497.5:n.303-43del | |
| ENST00000496887.6:c.423-43del | ENSP00000434560.1:n.423-43del | |
| NM_000218.2:c.684-43del , LRG_287t1:c.684-43del | NP_000209.2:n.684-43del | |
| NM_181798.1:c.303-43del , LRG_287t2:c.303-43del | NP_861463.1:n.303-43del | |
| NM_000218.3:c.684-43del MANE Select | NP_000209.2:n.684-43del |