Linked Data
dbSNP Id:
rs199469502
gnomAD v2:
3-93597935-A-AAATAC
gnomAD v3:
3-93879091-A-AAATAC
gnomAD v4:
3-93879091-A-AAATAC
MyVariant Identifiers:
chr3:g.93597935_93597936insAATAC (hg19)
chr3:g.93879091_93879092insAATAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93879092_93879096dup , CM000665.2:g.93879092_93879096dup | GRCh38 |
| NC_000003.11:g.93597936_93597940dup , CM000665.1:g.93597936_93597940dup | GRCh37 |
| NC_000003.10:g.95080626_95080630dup | NCBI36 |
| NG_009813.1:g.99995_99999dup , LRG_572:g.99995_99999dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000348974.5:c.1644+67_1644+71dup | ENSP00000330021.7:n.1644+67_1644+71dup | |
| ENST00000394236.9:c.1644+67_1644+71dup MANE Select | ENSP00000377783.3:n.1644+67_1644+71dup | |
| ENST00000407433.6:c.1599+67_1599+71dup | ENSP00000385794.2:n.1599+67_1599+71dup | |
| ENST00000647936.1:c.1644+67_1644+71dup | ENSP00000496822.1:n.1644+67_1644+71dup | |
| ENST00000648381.1:n.1812+67_1812+71dup | ||
| ENST00000648853.1:c.1602+67_1602+71dup | ENSP00000497262.1:n.1602+67_1602+71dup | |
| ENST00000649103.1:c.1743+67_1743+71dup | ENSP00000497962.1:n.1743+67_1743+71dup | |
| ENST00000649585.1:c.587+67_587+71dup | ENSP00000498163.1:n.587+67_587+71dup | |
| ENST00000650591.1:c.1740+67_1740+71dup | ENSP00000497376.1:n.1740+67_1740+71dup | |
| ENST00000394236.7:c.1644+67_1644+71dup | ENSP00000377783.3:n.1644+67_1644+71dup | |
| ENST00000407433.5:c.1251+67_1251+71dup | ENSP00000385794.1:n.1251+67_1251+71dup | |
| NM_000313.3:c.1644+67_1644+71dup , LRG_572t1:c.1644+67_1644+71dup | NP_000304.2:n.1644+67_1644+71dup | |
| NM_001314077.1:c.1740+67_1740+71dup , LRG_572t2:c.1740+67_1740+71dup | NP_001301006.1:n.1740+67_1740+71dup | |
| NM_000313.4:c.1644+67_1644+71dup MANE Select | NP_000304.2:n.1644+67_1644+71dup | |
| NM_001314077.2:c.1740+67_1740+71dup | NP_001301006.1:n.1740+67_1740+71dup |