Linked Data
dbSNP Id:
rs1486374558
gnomAD v2:
19-6709995-A-AGGGAGG
gnomAD v3:
19-6709984-A-AGGGAGG
gnomAD v4:
19-6709984-A-AGGGAGG
MyVariant Identifiers:
chr19:g.6709995_6709996insGGGAGG (hg19)
chr19:g.6709984_6709985insGGGAGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6709985_6709986insGGAGGG , CM000681.2:g.6709985_6709986insGGAGGG | GRCh38 |
| NC_000019.9:g.6709996_6709997insGGAGGG , CM000681.1:g.6709996_6709997insGGAGGG | GRCh37 |
| NC_000019.8:g.6660996_6660997insGGAGGG | NCBI36 |
| NG_009557.1:g.15667_15668insCCTCCC , LRG_27:g.15667_15668insCCTCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1564-143_1564-142insCCTCCC | ENSP00000512083.1:n.1564-143_1564-142insCCTCCC | |
| ENST00000695654.1:c.811-143_811-142insCCTCCC | ENSP00000512085.1:n.811-143_811-142insCCTCCC | |
| ENST00000695655.1:c.592-107_592-106insCCTCCC | ENSP00000512086.1:n.592-107_592-106insCCTCCC | |
| ENST00000695692.1:n.1051-143_1051-142insCCTCCC | ||
| ENST00000245907.11:c.1687-143_1687-142insCCTCCC MANE Select | ENSP00000245907.4:n.1687-143_1687-142insCCTCCC | |
| ENST00000245907.10:c.1687-143_1687-142insCCTCCC | ENSP00000245907.4:n.1687-143_1687-142insCCTCCC | |
| ENST00000600763.1:n.320-143_320-142insCCTCCC | ||
| NM_000064.3:c.1687-143_1687-142insCCTCCC | NP_000055.2:n.1687-143_1687-142insCCTCCC | |
| NM_000064.4:c.1687-143_1687-142insCCTCCC MANE Select | NP_000055.2:n.1687-143_1687-142insCCTCCC |