Linked Data
dbSNP Id:
rs1201845423
gnomAD v2:
19-41518279-A-ATAAT
gnomAD v4:
19-41012374-A-ATAAT
MyVariant Identifiers:
chr19:g.41518279_41518280insTAAT (hg19)
chr19:g.41012374_41012375insTAAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41012376_41012377insATTA , CM000681.2:g.41012376_41012377insATTA | GRCh38 |
| NC_000019.9:g.41518281_41518282insATTA , CM000681.1:g.41518281_41518282insATTA | GRCh37 |
| NC_000019.8:g.46210121_46210122insATTA | NCBI36 |
| NG_007929.1:g.26078_26079insATTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324071.10:c.1043_1044insATTA MANE Select | ENSP00000324648.2:p.Tyr348Ter | |
| ENST00000598834.2:c.1067_1068insATTA | ||
| ENST00000324071.8:c.1043_1044insATTA | ENSP00000324648.2:p.Tyr348Ter | |
| ENST00000593831.1:c.335_336insATTA | ENSP00000470582.1:p.Tyr112Ter | |
| ENST00000597612.1:n.538_539insATTA | ||
| NM_000767.4:c.1043_1044insATTA | NP_000758.1:p.Tyr348Ter | |
| XM_005258569.3:c.1043_1044insATTA | XP_005258626.1:p.Tyr348Ter | |
| XM_006723050.2:c.1043_1044insATTA | XP_006723113.1:p.Tyr348Ter | |
| XM_011526546.1:c.1043_1044insATTA | XP_011524848.1:p.Tyr348Ter | |
| XM_011526547.1:c.1043_1044insATTA | XP_011524849.1:p.Tyr348Ter | |
| XM_011526548.1:c.563_564insATTA | XP_011524850.1:p.Tyr188Ter | |
| XM_011526549.1:c.452_453insATTA | XP_011524851.1:p.Tyr151Ter | |
| XM_011526550.1:c.443_444insATTA | XP_011524852.1:p.Tyr148Ter | |
| NM_000767.5:c.1043_1044insATTA MANE Select | NP_000758.1:p.Tyr348Ter |