UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
1484010
dbSNP Id:
rs2149719615
gnomAD v3:
2-227008019-A-ATCAGGAATGAATACCCGATCCAGAGGC
gnomAD v4:
2-227008019-A-ATCAGGAATGAATACCCGATCCAGAGGC
MyVariant Identifiers:
chr2:g.227872735_227872736insTCAGGAATGAATACCCGATCCAGAGGC (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227008022_227008048dup , CM000664.2:g.227008022_227008048dup | GRCh38 |
| NC_000002.11:g.227872738_227872764dup , CM000664.1:g.227872738_227872764dup | GRCh37 |
| NC_000002.10:g.227580982_227581008dup | NCBI36 |
| NG_011592.1:g.161514_161540dup , LRG_231:g.161514_161540dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682098.1:c.383_409dup | ENSP00000508331.1:p.Leu136_Met137insSerLe... | |
| ENST00000396625.5:c.4781_4807dup MANE Select | ENSP00000379866.3:p.Leu1602_Met1603insSer... | |
| ENST00000396625.3:c.4781_4807dup | ENSP00000379866.3:p.Leu1602_Met1603insSer... | |
| NM_000092.4:c.4781_4807dup , LRG_231t1:c.4781_4807dup | NP_000083.3:p.Leu1602_Met1603insSerLeuTrp... | |
| XM_005246281.2:c.4781_4807dup | XP_005246338.1:p.Leu1602_Met1603insSerLeu... | |
| XM_005246282.2:c.4226_4252dup | XP_005246339.1:p.Leu1417_Met1418insSerLeu... | |
| XM_006712246.2:c.4592_4618dup | XP_006712309.1:p.Leu1539_Met1540insSerLeu... | |
| XM_006712249.2:c.4781_4807dup | XP_006712312.1:p.Leu1602_Met1603insSerLeu... | |
| XM_006712252.2:c.4216+14002_4216+14028dup | XP_006712315.1:n.4216+14002_4216+14028dup... | |
| XM_011510557.1:c.4700_4726dup | XP_011508859.1:p.Leu1575_Met1576insSerLeu... | |
| XM_011510558.1:c.4673_4699dup | XP_011508860.1:p.Leu1566_Met1567insSerLeu... | |
| XM_011510559.1:c.4781_4807dup | XP_011508861.1:p.Leu1602_Met1603insSerLeu... | |
| XM_011510560.1:c.4781_4807dup | XP_011508862.1:p.Leu1602_Met1603insSerLeu... | |
| XM_011510561.1:c.4781_4807dup | XP_011508863.1:p.Leu1602_Met1603insSerLeu... | |
| XM_011510562.1:c.4781_4807dup | XP_011508864.1:p.Leu1602_Met1603insSerLeu... | |
| XM_011510563.1:c.*114_*140dup | XP_011508865.1:n.*114_*140dup | |
| XM_011510564.1:c.*114_*140dup | XP_011508866.1:n.*114_*140dup | |
| XM_011510565.1:c.4216+14002_4216+14028dup | XP_011508867.1:n.4216+14002_4216+14028dup... | |
| XM_011510566.1:c.4216+14002_4216+14028dup | XP_011508868.1:n.4216+14002_4216+14028dup... | |
| XM_011510567.1:c.4216+14002_4216+14028dup | XP_011508869.1:n.4216+14002_4216+14028dup... | |
| XM_011510569.1:c.4216+14002_4216+14028dup | XP_011508871.1:n.4216+14002_4216+14028dup... | |
| XM_011510570.1:c.4216+14002_4216+14028dup | XP_011508872.1:n.4216+14002_4216+14028dup... | |
| XM_011510571.1:c.4216+14002_4216+14028dup | XP_011508873.1:n.4216+14002_4216+14028dup... | |
| XM_011510572.1:c.3107_3133dup | XP_011508874.1:p.Leu1044_Met1045insSerLeu... | |
| XR_922837.1:n.5091_5117dup | ||
| XR_922838.1:n.5091_5117dup | ||
| XR_922839.1:n.4526+14002_4526+14028dup | ||
| XR_922840.1:n.4526+14002_4526+14028dup | ||
| XM_005246281.3:c.4781_4807dup | XP_005246338.1:p.Leu1602_Met1603insSerLeu... | |
| XM_005246282.3:c.4226_4252dup | XP_005246339.1:p.Leu1417_Met1418insSerLeu... | |
| XM_006712246.3:c.4592_4618dup | XP_006712309.1:p.Leu1539_Met1540insSerLeu... | |
| XM_011510557.2:c.4700_4726dup | XP_011508859.1:p.Leu1575_Met1576insSerLeu... | |
| XM_011510558.2:c.4673_4699dup | XP_011508860.1:p.Leu1566_Met1567insSerLeu... | |
| XM_011510559.2:c.4781_4807dup | XP_011508861.1:p.Leu1602_Met1603insSerLeu... | |
| XM_011510560.2:c.4781_4807dup | XP_011508862.1:p.Leu1602_Met1603insSerLeu... | |
| XM_011510561.2:c.4781_4807dup | XP_011508863.1:p.Leu1602_Met1603insSerLeu... | |
| XM_011510562.2:c.4781_4807dup | XP_011508864.1:p.Leu1602_Met1603insSerLeu... | |
| XM_011510565.2:c.4216+14002_4216+14028dup | XP_011508867.1:n.4216+14002_4216+14028dup... | |
| XM_011510566.2:c.4216+14002_4216+14028dup | XP_011508868.1:n.4216+14002_4216+14028dup... | |
| XM_011510567.2:c.4216+14002_4216+14028dup | XP_011508869.1:n.4216+14002_4216+14028dup... | |
| XM_011510569.2:c.4216+14002_4216+14028dup | XP_011508871.1:n.4216+14002_4216+14028dup... | |
| XM_011510570.2:c.4216+14002_4216+14028dup | XP_011508872.1:n.4216+14002_4216+14028dup... | |
| XM_011510572.3:c.3107_3133dup | XP_011508874.1:p.Leu1044_Met1045insSerLeu... | |
| XM_017003296.1:c.4781_4807dup | XP_016858785.1:p.Leu1602_Met1603insSerLeu... | |
| XM_017003297.1:c.4664_4690dup | XP_016858786.1:p.Leu1563_Met1564insSerLeu... | |
| XM_017003298.1:c.4781_4807dup | XP_016858787.1:p.Leu1602_Met1603insSerLeu... | |
| XM_017003300.1:c.4216+14002_4216+14028dup | XP_016858789.1:n.4216+14002_4216+14028dup... | |
| XR_001738602.1:n.5107_5133dup | ||
| XR_001738603.1:n.5107_5133dup | ||
| XR_001738604.1:n.4853_4879dup | ||
| XR_001738606.1:n.4542+14002_4542+14028dup | ||
| XR_001738607.1:n.4542+14002_4542+14028dup | ||
| XR_922837.2:n.5107_5133dup | ||
| NM_000092.5:c.4781_4807dup MANE Select | NP_000083.3:p.Leu1602_Met1603insSerLeuTrp... |