Linked Data
dbSNP Id:
rs1567568810
gnomAD v2:
17-7127835-G-GAGGCCAAGCTGATAAAACACAAGA
gnomAD v4:
17-7224516-G-GAGGCCAAGCTGATAAAACACAAGA
MyVariant Identifiers:
chr17:g.7127835_7127836insAGGCCAAGCTGATAAAACACAAGA (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224520_7224543dup , CM000679.2:g.7224520_7224543dup | GRCh38 |
| NC_000017.10:g.7127839_7127862dup , CM000679.1:g.7127839_7127862dup | GRCh37 |
| NC_000017.9:g.7068563_7068586dup | NCBI36 |
| NG_007975.1:g.9687_9710dup | |
| NG_008391.2:g.511_534dup | |
| NG_033038.1:g.15005_15028dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.1646_1669dup MANE Select | ENSP00000349297.5:p.Lys556_Gly557insAlaLy... | |
| ENST00000322910.9:c.*1601_*1624dup | ENSP00000325395.5:n.*1601_*1624dup | |
| ENST00000350303.9:c.1580_1603dup | ENSP00000344152.5:p.Lys534_Gly535insAlaLy... | |
| ENST00000356839.9:c.1646_1669dup | ENSP00000349297.5:p.Lys556_Gly557insAlaLy... | |
| ENST00000542255.6:c.504_527dup | ||
| ENST00000543245.6:c.1715_1738dup | ENSP00000438689.2:p.Lys579_Gly580insAlaLy... | |
| ENST00000578319.5:n.227_250dup | ||
| ENST00000578711.1:n.1016_1039dup | ||
| ENST00000578809.5:n.218_241dup | ||
| ENST00000579391.1:n.250_273dup | ||
| ENST00000579425.5:n.762_785dup | ||
| ENST00000579546.1:c.381_404dup | ||
| ENST00000582450.1:n.154_177dup | ||
| ENST00000583074.5:n.267_290dup | ||
| ENST00000583848.5:c.32_55dup | ENSP00000466487.1:p.Lys18_Gly19insAlaLysL... | |
| ENST00000583850.5:n.417_440dup | ||
| ENST00000583858.5:c.577_600dup | ||
| ENST00000585203.6:n.837_860dup | ||
| NM_000018.3:c.1646_1669dup | NP_000009.1:p.Lys556_Gly557insAlaLysLeuIl... | |
| NM_001033859.2:c.1580_1603dup | NP_001029031.1:p.Lys534_Gly535insAlaLysLe... | |
| NM_001270447.1:c.1715_1738dup | NP_001257376.1:p.Lys579_Gly580insAlaLysLe... | |
| NM_001270448.1:c.1418_1441dup | NP_001257377.1:p.Lys480_Gly481insAlaLysLe... | |
| XM_006721516.2:c.1646_1669dup | XP_006721579.2:p.Lys556_Gly557insAlaLysLe... | |
| XM_011523829.1:c.1544_1567dup | XP_011522131.1:p.Lys522_Gly523insAlaLysLe... | |
| XM_011523830.1:c.1544_1567dup | XP_011522132.1:p.Lys522_Gly523insAlaLysLe... | |
| XR_934021.1:n.1749_1772dup | ||
| XR_934022.1:n.1655_1678dup | ||
| XR_934023.1:n.1655_1678dup | ||
| XM_006721516.3:c.1646_1669dup | XP_006721579.2:p.Lys556_Gly557insAlaLysLe... | |
| XM_011523829.2:c.1544_1567dup | XP_011522131.1:p.Lys522_Gly523insAlaLysLe... | |
| XM_011523830.2:c.1544_1567dup | XP_011522132.1:p.Lys522_Gly523insAlaLysLe... | |
| XM_024450741.1:c.1634_1657dup | XP_024306509.1:p.Lys552_Gly553insAlaLysLe... | |
| XR_934021.2:n.1701_1724dup | ||
| XR_934022.2:n.1607_1630dup | ||
| XR_934023.2:n.1607_1630dup | ||
| NM_000018.4:c.1646_1669dup MANE Select | NP_000009.1:p.Lys556_Gly557insAlaLysLeuIl... | |
| NM_001033859.3:c.1580_1603dup | NP_001029031.1:p.Lys534_Gly535insAlaLysLe... | |
| NM_001270447.2:c.1715_1738dup | NP_001257376.1:p.Lys579_Gly580insAlaLysLe... | |
| NM_001270448.2:c.1418_1441dup | NP_001257377.1:p.Lys480_Gly481insAlaLysLe... |