Linked Data
dbSNP Id:
rs1301120258
gnomAD v2:
3-123426879-C-CATCCCTGTTT
gnomAD v4:
3-123708032-C-CATCCCTGTTT
MyVariant Identifiers:
chr3:g.123426879_123426880insATCCCTGTTT (hg19)
chr3:g.123708032_123708033insATCCCTGTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.123708033_123708034insTCCCTGTTTA , CM000665.2:g.123708033_123708034insTCCCTGTTTA | GRCh38 |
| NC_000003.11:g.123426880_123426881insTCCCTGTTTA , CM000665.1:g.123426880_123426881insTCCCTGTTTA | GRCh37 |
| NC_000003.10:g.124909570_124909571insTCCCTGTTTA | NCBI36 |
| NG_029111.1:g.181270_181271insAAACAGGGAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346322.10:c.1934-30_1934-29insAAACAGGGAT | ENSP00000320622.6:n.1934-30_1934-29insAAACAGGGAT | |
| ENST00000686406.1:c.2141-30_2141-29insAAACAGGGAT | ENSP00000509044.1:n.2141-30_2141-29insAAACAGGGAT | |
| ENST00000686761.1:c.2141-30_2141-29insAAACAGGGAT | ENSP00000508758.1:n.2141-30_2141-29insAAACAGGGAT | |
| ENST00000686822.1:n.2035-30_2035-29insAAACAGGGAT | ||
| ENST00000687848.1:c.2171-30_2171-29insAAACAGGGAT | ENSP00000508761.1:n.2171-30_2171-29insAAACAGGGAT | |
| ENST00000690457.1:c.1379-30_1379-29insAAACAGGGAT | ENSP00000508777.1:n.1379-30_1379-29insAAACAGGGAT | |
| ENST00000693689.1:c.1934-30_1934-29insAAACAGGGAT | ENSP00000510503.1:n.1934-30_1934-29insAAACAGGGAT | |
| ENST00000360304.8:c.2141-30_2141-29insAAACAGGGAT MANE Select | ENSP00000353452.3:n.2141-30_2141-29insAAACAGGGAT | |
| ENST00000346322.9:c.1934-30_1934-29insAAACAGGGAT | ENSP00000320622.5:n.1934-30_1934-29insAAACAGGGAT | |
| ENST00000354792.9:c.1934-30_1934-29insAAACAGGGAT | ENSP00000346846.6:n.1934-30_1934-29insAAACAGGGAT | |
| ENST00000359169.5:c.2141-30_2141-29insAAACAGGGAT | ENSP00000352088.1:n.2141-30_2141-29insAAACAGGGAT | |
| ENST00000360304.7:c.2141-30_2141-29insAAACAGGGAT | ENSP00000353452.3:n.2141-30_2141-29insAAACAGGGAT | |
| ENST00000360772.7:c.2141-30_2141-29insAAACAGGGAT | ENSP00000354004.3:n.2141-30_2141-29insAAACAGGGAT | |
| ENST00000464489.5:c.*1720-30_*1720-29insAAACAGGGAT | ENSP00000417798.1:n.*1720-30_*1720-29insAAACAGGGAT | |
| ENST00000475616.5:c.2141-30_2141-29insAAACAGGGAT | ENSP00000418335.1:n.2141-30_2141-29insAAACAGGGAT | |
| NM_053025.3:c.2141-30_2141-29insAAACAGGGAT | NP_444253.3:n.2141-30_2141-29insAAACAGGGAT | |
| NM_053026.3:c.1934-30_1934-29insAAACAGGGAT | NP_444254.3:n.1934-30_1934-29insAAACAGGGAT | |
| NM_053027.3:c.2141-30_2141-29insAAACAGGGAT | NP_444255.3:n.2141-30_2141-29insAAACAGGGAT | |
| NM_053028.3:c.1934-30_1934-29insAAACAGGGAT | NP_444256.3:n.1934-30_1934-29insAAACAGGGAT | |
| XM_011512860.1:c.2141-30_2141-29insAAACAGGGAT | XP_011511162.1:n.2141-30_2141-29insAAACAGGGAT | |
| XM_011512861.1:c.2141-30_2141-29insAAACAGGGAT | XP_011511163.1:n.2141-30_2141-29insAAACAGGGAT | |
| XM_011512862.1:c.1613-30_1613-29insAAACAGGGAT | XP_011511164.1:n.1613-30_1613-29insAAACAGGGAT | |
| XR_241556.2:n.313+4024_313+4025insTCCCTGTTTA | ||
| XR_427403.2:n.406+4024_406+4025insTCCCTGTTTA | ||
| XR_924414.1:n.406+4024_406+4025insTCCCTGTTTA | ||
| XR_924415.1:n.403+4024_403+4025insTCCCTGTTTA | ||
| XR_924416.1:n.230+4024_230+4025insTCCCTGTTTA | ||
| XR_924417.1:n.226+4024_226+4025insTCCCTGTTTA | ||
| XR_924418.1:n.406+4024_406+4025insTCCCTGTTTA | ||
| NM_001321309.1:c.1613-30_1613-29insAAACAGGGAT | NP_001308238.1:n.1613-30_1613-29insAAACAGGGAT | |
| XM_011512860.3:c.2171-30_2171-29insAAACAGGGAT | XP_011511162.2:n.2171-30_2171-29insAAACAGGGAT | |
| XM_011512861.3:c.2171-30_2171-29insAAACAGGGAT | XP_011511163.2:n.2171-30_2171-29insAAACAGGGAT | |
| XM_024453532.1:c.2171-30_2171-29insAAACAGGGAT | XP_024309300.1:n.2171-30_2171-29insAAACAGGGAT | |
| XM_024453533.1:c.2141-30_2141-29insAAACAGGGAT | XP_024309301.1:n.2141-30_2141-29insAAACAGGGAT | |
| XM_024453534.1:c.1964-30_1964-29insAAACAGGGAT | XP_024309302.1:n.1964-30_1964-29insAAACAGGGAT | |
| XM_024453535.1:c.1934-30_1934-29insAAACAGGGAT | XP_024309303.1:n.1934-30_1934-29insAAACAGGGAT | |
| XM_024453536.1:c.2141-30_2141-29insAAACAGGGAT | XP_024309304.1:n.2141-30_2141-29insAAACAGGGAT | |
| XM_024453537.1:c.2141-30_2141-29insAAACAGGGAT | XP_024309305.1:n.2141-30_2141-29insAAACAGGGAT | |
| XR_001740871.2:n.406+4024_406+4025insTCCCTGTTTA | ||
| XR_427403.4:n.406+4024_406+4025insTCCCTGTTTA | ||
| XR_924414.3:n.406+4024_406+4025insTCCCTGTTTA | ||
| XR_924417.3:n.251+4024_251+4025insTCCCTGTTTA | ||
| XR_924418.3:n.406+4024_406+4025insTCCCTGTTTA | ||
| NM_001321309.2:c.1613-30_1613-29insAAACAGGGAT | NP_001308238.1:n.1613-30_1613-29insAAACAGGGAT | |
| NM_053025.4:c.2141-30_2141-29insAAACAGGGAT MANE Select | NP_444253.3:n.2141-30_2141-29insAAACAGGGAT | |
| NM_053026.4:c.1934-30_1934-29insAAACAGGGAT | NP_444254.3:n.1934-30_1934-29insAAACAGGGAT | |
| NM_053027.4:c.2141-30_2141-29insAAACAGGGAT | NP_444255.3:n.2141-30_2141-29insAAACAGGGAT | |
| NM_053028.4:c.1934-30_1934-29insAAACAGGGAT | NP_444256.3:n.1934-30_1934-29insAAACAGGGAT |