Linked Data
dbSNP Id:
rs1252189207
gnomAD v3:
11-118339708-G-GTA
gnomAD v4:
11-118339708-G-GTA
MyVariant Identifiers:
chr11:g.118210423_118210424insTA (hg19)
chr11:g.118339708_118339709insTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118339709_118339710dup , CM000673.2:g.118339709_118339710dup | GRCh38 |
| NC_000011.9:g.118210424_118210425dup , CM000673.1:g.118210424_118210425dup | GRCh37 |
| NC_000011.8:g.117715634_117715635dup | NCBI36 |
| NG_007566.1:g.366_367dup , LRG_39:g.366_367dup | |
| NG_009891.1:g.8035_8036dup , LRG_37:g.8035_8036dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695666.1:n.958_959dup | ||
| ENST00000695667.1:n.476_477dup | ||
| ENST00000300692.9:c.406+65_406+66dup MANE Select | ENSP00000300692.4:n.406+65_406+66dup | |
| ENST00000300692.8:c.406+65_406+66dup | ENSP00000300692.4:n.406+65_406+66dup | |
| ENST00000392884.2:c.275-216_275-215dup | ENSP00000376622.2:n.275-216_275-215dup | |
| ENST00000526561.1:n.80-216_80-215dup | ||
| ENST00000529594.5:c.187+65_187+66dup | ENSP00000437335.1:n.187+65_187+66dup | |
| ENST00000534687.5:c.288-216_288-215dup | ||
| NM_000732.4:c.406+65_406+66dup , LRG_37t1:c.406+65_406+66dup | NP_000723.1:n.406+65_406+66dup | |
| NM_001040651.1:c.275-216_275-215dup | NP_001035741.1:n.275-216_275-215dup | |
| NM_001040651.2:c.275-216_275-215dup | NP_001035741.1:n.275-216_275-215dup | |
| NM_000732.6:c.406+65_406+66dup MANE Select | NP_000723.1:n.406+65_406+66dup |