Linked Data
gnomAD v2:
13-113803690-CTGT-C
gnomAD v3:
13-113149376-CTGT-C
gnomAD v4:
13-113149376-CTGT-C
MyVariant Identifiers:
chr13:g.113803691_113803693del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113149377_113149379del , CM000675.2:g.113149377_113149379del | GRCh38 |
| NC_000013.10:g.113803691_113803693del , CM000675.1:g.113803691_113803693del | GRCh37 |
| NC_000013.9:g.112851692_112851694del | NCBI36 |
| NG_009258.1:g.31579_31581del , LRG_548:g.31579_31581del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375559.8:c.1327_1329del MANE Select | ENSP00000364709.3:p.Cys443del | |
| ENST00000375551.7:c.*318_*320del | ENSP00000364701.3:n.*318_*320del | |
| ENST00000375559.7:c.1327_1329del | ENSP00000364709.3:p.Cys443del | |
| ENST00000409306.5:c.*318_*320del | ENSP00000387092.1:n.*318_*320del | |
| NM_000504.3:c.1327_1329del , LRG_548t1:c.1327_1329del | NP_000495.1:p.Cys443del | |
| NM_001312674.1:c.1195_1197del | NP_001299603.1:p.Cys399del | |
| NM_001312675.1:c.*318_*320del | NP_001299604.1:n.*318_*320del | |
| NM_000504.4:c.1327_1329del MANE Select | NP_000495.1:p.Cys443del | |
| NM_001312674.2:c.1195_1197del | NP_001299603.1:p.Cys399del | |
| NM_001312675.2:c.*318_*320del | NP_001299604.1:n.*318_*320del |