Linked Data
ClinVar Variation Id:
1623773
ClinVar RCV Id:
RCV002110308
dbSNP Id:
rs562507867
ExAC:
1:230839998 T / TGGC
gnomAD v2:
1-230839998-T-TGGC
gnomAD v3:
1-230704252-T-TGGC
gnomAD v4:
1-230704252-T-TGGC
MyVariant Identifiers:
chr1:g.230839998_230839999insGGC (hg19)
chr1:g.230704252_230704253insGGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230704255_230704257dup , CM000663.2:g.230704255_230704257dup | GRCh38 |
| NC_000001.10:g.230840001_230840003dup , CM000663.1:g.230840001_230840003dup | GRCh37 |
| NC_000001.9:g.228906624_228906626dup | NCBI36 |
| NG_008836.1:g.15336_15338dup | |
| NG_008836.2:g.15336_15338dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366667.6:c.1180_1182dup MANE Select | ENSP00000355627.5:p.Ala394_Ile395insAla | |
| ENST00000679684.1:c.1180_1182dup | ENSP00000505981.1:p.Ala394_Ile395insAla | |
| ENST00000679738.1:c.1180_1182dup | ENSP00000505063.1:p.Ala394_Ile395insAla | |
| ENST00000679802.1:c.*639_*641dup | ENSP00000505184.1:n.*639_*641dup | |
| ENST00000679854.1:n.5485_5487dup | ||
| ENST00000679957.1:c.1180_1182dup | ENSP00000506646.1:p.Ala394_Ile395insAla | |
| ENST00000680041.1:c.1180_1182dup | ENSP00000504866.1:p.Ala394_Ile395insAla | |
| ENST00000680783.1:c.829+5740_829+5742dup | ENSP00000506329.1:n.829+5740_829+5742dup | |
| ENST00000681269.1:c.1180_1182dup | ENSP00000505985.1:p.Ala394_Ile395insAla | |
| ENST00000681347.1:n.3286_3288dup | ||
| ENST00000681514.1:c.1180_1182dup | ENSP00000505963.1:p.Ala394_Ile395insAla | |
| ENST00000681772.1:c.*674_*676dup | ENSP00000505829.1:n.*674_*676dup | |
| ENST00000366667.4:c.1207_1209dup | ENSP00000355627.4:p.Ala403_Ile404insAla | |
| NM_000029.3:c.1207_1209dup | NP_000020.1:p.Ala403_Ile404insAla | |
| NM_000029.4:c.1207_1209dup | NP_000020.1:p.Ala403_Ile404insAla | |
| NM_001382817.3:c.1180_1182dup | NP_001369746.2:p.Ala394_Ile395insAla | |
| NM_001384479.1:c.1180_1182dup MANE Select | NP_001371408.1:p.Ala394_Ile395insAla |