Linked Data
dbSNP Id:
rs2071384885
gnomAD v2:
17-7127853-CACAAGAAGGGGA-C
gnomAD v3:
17-7224534-CACAAGAAGGGGA-C
gnomAD v4:
17-7224534-CACAAGAAGGGGA-C
MyVariant Identifiers:
chr17:g.7127854_7127865del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224535_7224546del , CM000679.2:g.7224535_7224546del | GRCh38 |
| NC_000017.10:g.7127854_7127865del , CM000679.1:g.7127854_7127865del | GRCh37 |
| NC_000017.9:g.7068578_7068589del | NCBI36 |
| NG_007975.1:g.9702_9713del | |
| NG_008391.2:g.505_516del | |
| NG_033038.1:g.14999_15010del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1661_1672del MANE Select | ENSP00000349297.5:p.His554_Ile558delinsLeu | |
| ENST00000322910.9:c.*1616_*1627del | ENSP00000325395.5:n.*1616_*1627del | |
| ENST00000350303.9:c.1595_1606del | ENSP00000344152.5:p.His532_Ile536delinsLeu | |
| ENST00000356839.9:c.1661_1672del | ENSP00000349297.5:p.His554_Ile558delinsLeu | |
| ENST00000542255.6:c.519_530del | ||
| ENST00000543245.6:c.1730_1741del | ENSP00000438689.2:p.His577_Ile581delinsLeu | |
| ENST00000578319.5:n.242_253del | ||
| ENST00000578711.1:n.1031_1042del | ||
| ENST00000578809.5:n.233_244del | ||
| ENST00000579391.1:n.265_276del | ||
| ENST00000579425.5:n.777_788del | ||
| ENST00000579546.1:c.396_407del | ||
| ENST00000582450.1:n.169_180del | ||
| ENST00000583074.5:n.282_293del | ||
| ENST00000583848.5:c.47_58del | ENSP00000466487.1:p.His16_Ile20delinsLeu | |
| ENST00000583850.5:n.432_443del | ||
| ENST00000583858.5:c.592_603del | ||
| ENST00000585203.6:n.852_863del | ||
| NM_000018.3:c.1661_1672del | NP_000009.1:p.His554_Ile558delinsLeu | |
| NM_001033859.2:c.1595_1606del | NP_001029031.1:p.His532_Ile536delinsLeu | |
| NM_001270447.1:c.1730_1741del | NP_001257376.1:p.His577_Ile581delinsLeu | |
| NM_001270448.1:c.1433_1444del | NP_001257377.1:p.His478_Ile482delinsLeu | |
| XM_006721516.2:c.1661_1672del | XP_006721579.2:p.His554_Ile558delinsLeu | |
| XM_011523829.1:c.1559_1570del | XP_011522131.1:p.His520_Ile524delinsLeu | |
| XM_011523830.1:c.1559_1570del | XP_011522132.1:p.His520_Ile524delinsLeu | |
| XR_934021.1:n.1764_1775del | ||
| XR_934022.1:n.1670_1681del | ||
| XR_934023.1:n.1670_1681del | ||
| XM_006721516.3:c.1661_1672del | XP_006721579.2:p.His554_Ile558delinsLeu | |
| XM_011523829.2:c.1559_1570del | XP_011522131.1:p.His520_Ile524delinsLeu | |
| XM_011523830.2:c.1559_1570del | XP_011522132.1:p.His520_Ile524delinsLeu | |
| XM_024450741.1:c.1649_1660del | XP_024306509.1:p.His550_Ile554delinsLeu | |
| XR_934021.2:n.1716_1727del | ||
| XR_934022.2:n.1622_1633del | ||
| XR_934023.2:n.1622_1633del | ||
| NM_000018.4:c.1661_1672del MANE Select | NP_000009.1:p.His554_Ile558delinsLeu | |
| NM_001033859.3:c.1595_1606del | NP_001029031.1:p.His532_Ile536delinsLeu | |
| NM_001270447.2:c.1730_1741del | NP_001257376.1:p.His577_Ile581delinsLeu | |
| NM_001270448.2:c.1433_1444del | NP_001257377.1:p.His478_Ile482delinsLeu |