Linked Data
dbSNP Id:
rs764535398
ExAC:
3:123038682 A / ACGGG
gnomAD v2:
3-123038682-A-ACGGG
gnomAD v4:
3-123319835-A-ACGGG
MyVariant Identifiers:
chr3:g.123038682_123038683insCGGG (hg19)
chr3:g.123319835_123319836insCGGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.123319838_123319841dup , CM000665.2:g.123319838_123319841dup | GRCh38 |
| NC_000003.11:g.123038685_123038688dup , CM000665.1:g.123038685_123038688dup | GRCh37 |
| NC_000003.10:g.124521375_124521378dup | NCBI36 |
| NG_033882.1:g.133707_133710dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000466617.6:c.789-21_789-18dup | ENSP00000420082.2:n.789-21_789-18dup | |
| ENST00000470367.2:c.1077-21_1077-18dup | ENSP00000514541.1:n.1077-21_1077-18dup | |
| ENST00000483566.2:c.789-21_789-18dup | ENSP00000420252.2:n.789-21_789-18dup | |
| ENST00000699714.1:c.789-21_789-18dup | ENSP00000514539.1:n.789-21_789-18dup | |
| ENST00000699715.1:c.789-21_789-18dup | ENSP00000514540.1:n.789-21_789-18dup | |
| ENST00000699716.1:c.789-21_789-18dup | ENSP00000514542.1:n.789-21_789-18dup | |
| ENST00000699718.1:c.2112-21_2112-18dup | ENSP00000514543.1:n.2112-21_2112-18dup | |
| ENST00000699719.1:n.371-21_371-18dup | ||
| ENST00000462833.6:c.2112-21_2112-18dup MANE Select | ENSP00000419361.1:n.2112-21_2112-18dup | |
| ENST00000309879.9:c.1062-21_1062-18dup | ENSP00000308685.5:n.1062-21_1062-18dup | |
| ENST00000462833.5:c.2112-21_2112-18dup | ENSP00000419361.1:n.2112-21_2112-18dup | |
| ENST00000466617.5:c.789-21_789-18dup | ENSP00000420082.1:n.789-21_789-18dup | |
| ENST00000491190.5:c.1011-21_1011-18dup | ENSP00000418537.1:n.1011-21_1011-18dup | |
| NM_001199642.1:c.1062-21_1062-18dup | NP_001186571.1:n.1062-21_1062-18dup | |
| NM_183357.2:c.2112-21_2112-18dup | NP_899200.1:n.2112-21_2112-18dup | |
| XM_005247077.2:c.2112-21_2112-18dup | XP_005247134.1:n.2112-21_2112-18dup | |
| XM_005247078.1:c.1062-21_1062-18dup | XP_005247135.1:n.1062-21_1062-18dup | |
| XM_006713483.1:c.1011-21_1011-18dup | XP_006713546.1:n.1011-21_1011-18dup | |
| XM_006713484.1:c.789-21_789-18dup | XP_006713547.1:n.789-21_789-18dup | |
| XM_011512358.1:c.2112-21_2112-18dup | XP_011510660.1:n.2112-21_2112-18dup | |
| XM_011512359.1:c.1113-21_1113-18dup | XP_011510661.1:n.1113-21_1113-18dup | |
| XM_011512360.1:c.1023-21_1023-18dup | XP_011510662.1:n.1023-21_1023-18dup | |
| XM_011512361.1:c.789-21_789-18dup | XP_011510663.1:n.789-21_789-18dup | |
| XM_005247077.4:c.2112-21_2112-18dup | XP_005247134.1:n.2112-21_2112-18dup | |
| XM_011512359.2:c.1113-21_1113-18dup | XP_011510661.1:n.1113-21_1113-18dup | |
| XM_011512360.3:c.1023-21_1023-18dup | XP_011510662.1:n.1023-21_1023-18dup | |
| XM_017005638.1:c.1014-21_1014-18dup | XP_016861127.1:n.1014-21_1014-18dup | |
| XM_017005639.1:c.1014-21_1014-18dup | XP_016861128.1:n.1014-21_1014-18dup | |
| NM_001378259.1:c.2112-21_2112-18dup | NP_001365188.1:n.2112-21_2112-18dup | |
| NM_183357.3:c.2112-21_2112-18dup MANE Select | NP_899200.1:n.2112-21_2112-18dup |