Linked Data
dbSNP Id:
rs1384546724
gnomAD v2:
4-110658972-C-CAGTT
gnomAD v3:
4-109737816-C-CAGTT
gnomAD v4:
4-109737816-C-CAGTT
MyVariant Identifiers:
chr4:g.110658972_110658973insAGTT (hg19)
chr4:g.109737816_109737817insAGTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.109737819_109737822dup , CM000666.2:g.109737819_109737822dup | GRCh38 |
| NC_000004.11:g.110658975_110658978dup , CM000666.1:g.110658975_110658978dup | GRCh37 |
| NC_000004.10:g.110878424_110878427dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695844.1:n.1714-3024_1714-3021dup | ||
| ENST00000695845.1:n.1712+4671_1712+4674dup | ||
| ENST00000645635.1:c.1534+4671_1534+4674dup | ENSP00000493607.1:n.1534+4671_1534+4674dup | |
| XM_011531920.1:c.1558+4671_1558+4674dup | XP_011530222.1:n.1558+4671_1558+4674dup | |
| XM_011531920.2:c.1558+4671_1558+4674dup | XP_011530222.1:n.1558+4671_1558+4674dup | |
| XM_017008164.2:c.1534+4671_1534+4674dup | XP_016863653.1:n.1534+4671_1534+4674dup | |
| XM_017008165.2:c.1513+4671_1513+4674dup | XP_016863654.1:n.1513+4671_1513+4674dup | |
| XM_017008166.2:c.1535-3020_1535-3017dup | XP_016863655.1:n.1535-3020_1535-3017dup | |
| NM_001375278.1:c.1559-3024_1559-3021dup | NP_001362207.1:n.1559-3024_1559-3021dup | |
| NM_001375279.1:c.1535-3024_1535-3021dup | NP_001362208.1:n.1535-3024_1535-3021dup | |
| NM_001375280.1:c.1514-3024_1514-3021dup | NP_001362209.1:n.1514-3024_1514-3021dup | |
| NM_001375281.1:c.1534+4671_1534+4674dup | NP_001362210.1:n.1534+4671_1534+4674dup | |
| NM_001375282.1:c.1513+4671_1513+4674dup | NP_001362211.1:n.1513+4671_1513+4674dup |