Linked Data
dbSNP Id:
rs781210512
ExAC:
8:61693787 A / ACTTGGG
gnomAD v2:
8-61693787-A-ACTTGGG
gnomAD v4:
8-60781228-A-ACTTGGG
MyVariant Identifiers:
chr8:g.61693787_61693788insCTTGGG (hg19)
chr8:g.60781228_60781229insCTTGGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60781228_60781229insCTTGGG , CM000670.2:g.60781228_60781229insCTTGGG | GRCh38 |
| NC_000008.10:g.61693787_61693788insCTTGGG , CM000670.1:g.61693787_61693788insCTTGGG | GRCh37 |
| NC_000008.9:g.61856341_61856342insCTTGGG | NCBI36 |
| NG_007009.1:g.107449_107450insCTTGGG , LRG_176:g.107449_107450insCTTGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695848.1:n.2407_2408insCTTGGG | ||
| ENST00000695849.1:n.2407_2408insCTTGGG | ||
| ENST00000695853.1:c.1894_1895insCTTGGG | ENSP00000512218.1:p.Asn632delinsThrTrpAsp | |
| ENST00000700671.1:c.1894_1895insCTTGGG | ENSP00000515139.1:p.Asn632delinsThrTrpAsp | |
| ENST00000423902.7:c.1894_1895insCTTGGG MANE Select | ENSP00000392028.1:p.Asn632delinsThrTrpAsp | |
| ENST00000423902.6:c.1894_1895insCTTGGG | ENSP00000392028.1:p.Asn632delinsThrTrpAsp | |
| ENST00000524602.5:c.1716+178_1716+179insCTTGGG | ENSP00000437061.1:n.1716+178_1716+179insCTTGGG | |
| ENST00000525508.1:c.1894_1895insCTTGGG | ENSP00000436027.1:p.Asn632delinsThrTrpAsp | |
| ENST00000527900.1:c.117+178_117+179insCTTGGG | ENSP00000433336.1:n.117+178_117+179insCTTGGG | |
| NM_001316690.1:c.1716+178_1716+179insCTTGGG | NP_001303619.1:n.1716+178_1716+179insCTTGGG | |
| NM_017780.3:c.1894_1895insCTTGGG | NP_060250.2:p.Asn632delinsThrTrpAsp | |
| XM_011517553.1:c.1894_1895insCTTGGG | XP_011515855.1:p.Asn632delinsThrTrpAsp | |
| XM_011517554.1:c.1894_1895insCTTGGG | XP_011515856.1:p.Asn632delinsThrTrpAsp | |
| XM_011517555.1:c.1894_1895insCTTGGG | XP_011515857.1:p.Asn632delinsThrTrpAsp | |
| XM_011517556.1:c.1894_1895insCTTGGG | XP_011515858.1:p.Asn632delinsThrTrpAsp | |
| XM_011517560.1:c.1894_1895insCTTGGG | XP_011515862.1:p.Asn632delinsThrTrpAsp | |
| XM_011517553.2:c.1894_1895insCTTGGG | XP_011515855.1:p.Asn632delinsThrTrpAsp | |
| XM_011517554.3:c.1894_1895insCTTGGG | XP_011515856.1:p.Asn632delinsThrTrpAsp | |
| XM_011517555.2:c.1894_1895insCTTGGG | XP_011515857.1:p.Asn632delinsThrTrpAsp | |
| XM_011517560.2:c.1894_1895insCTTGGG | XP_011515862.1:p.Asn632delinsThrTrpAsp | |
| XM_017013612.1:c.1894_1895insCTTGGG | XP_016869101.1:p.Asn632delinsThrTrpAsp | |
| XM_017013613.1:c.1894_1895insCTTGGG | XP_016869102.1:p.Asn632delinsThrTrpAsp | |
| NM_017780.4:c.1894_1895insCTTGGG MANE Select | NP_060250.2:p.Asn632delinsThrTrpAsp |