Linked Data
dbSNP Id:
rs1418426461
gnomAD v2:
17-7127881-C-CGACCACCGAGA
gnomAD v3:
17-7224562-C-CGACCACCGAGA
gnomAD v4:
17-7224562-C-CGACCACCGAGA
MyVariant Identifiers:
chr17:g.7127881_7127882insGACCACCGAGA (hg19)
chr17:g.7224562_7224563insGACCACCGAGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224562_7224563insGACCACCGAGA , CM000679.2:g.7224562_7224563insGACCACCGAGA | GRCh38 |
| NC_000017.10:g.7127881_7127882insGACCACCGAGA , CM000679.1:g.7127881_7127882insGACCACCGAGA | GRCh37 |
| NC_000017.9:g.7068605_7068606insGACCACCGAGA | NCBI36 |
| NG_007975.1:g.9729_9730insGACCACCGAGA | |
| NG_008391.2:g.488_489insTCTCGGTGGTC | |
| NG_033038.1:g.14982_14983insTCTCGGTGGTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1678+10_1678+11insGACCACCGAGA MANE Select | ENSP00000349297.5:n.1678+10_1678+11insGACCACCGAGA | |
| ENST00000322910.9:c.*1633+10_*1633+11insGACCACCGAGA | ENSP00000325395.5:n.*1633+10_*1633+11insGACCACCGAGA | |
| ENST00000350303.9:c.1612+10_1612+11insGACCACCGAGA | ENSP00000344152.5:n.1612+10_1612+11insGACCACCGAGA | |
| ENST00000356839.9:c.1678+10_1678+11insGACCACCGAGA | ENSP00000349297.5:n.1678+10_1678+11insGACCACCGAGA | |
| ENST00000542255.6:c.536+10_536+11insGACCACCGAGA | ||
| ENST00000543245.6:c.1747+10_1747+11insGACCACCGAGA | ENSP00000438689.2:n.1747+10_1747+11insGACCACCGAGA | |
| ENST00000578319.5:n.259+10_259+11insGACCACCGAGA | ||
| ENST00000578711.1:n.1058_1059insGACCACCGAGA | ||
| ENST00000578809.5:n.250+10_250+11insGACCACCGAGA | ||
| ENST00000579391.1:n.292_293insGACCACCGAGA | ||
| ENST00000579425.5:n.794+10_794+11insGACCACCGAGA | ||
| ENST00000579546.1:c.413+10_413+11insGACCACCGAGA | ||
| ENST00000582450.1:n.196_197insGACCACCGAGA | ||
| ENST00000583074.5:n.299+10_299+11insGACCACCGAGA | ||
| ENST00000583848.5:c.64+10_64+11insGACCACCGAGA | ENSP00000466487.1:n.64+10_64+11insGACCACCGAGA | |
| ENST00000583850.5:n.449+10_449+11insGACCACCGAGA | ||
| ENST00000583858.5:c.609+10_609+11insGACCACCGAGA | ||
| ENST00000585203.6:n.869+10_869+11insGACCACCGAGA | ||
| NM_000018.3:c.1678+10_1678+11insGACCACCGAGA | NP_000009.1:n.1678+10_1678+11insGACCACCGAGA | |
| NM_001033859.2:c.1612+10_1612+11insGACCACCGAGA | NP_001029031.1:n.1612+10_1612+11insGACCACCGAGA | |
| NM_001270447.1:c.1747+10_1747+11insGACCACCGAGA | NP_001257376.1:n.1747+10_1747+11insGACCACCGAGA | |
| NM_001270448.1:c.1450+10_1450+11insGACCACCGAGA | NP_001257377.1:n.1450+10_1450+11insGACCACCGAGA | |
| XM_006721516.2:c.1678+10_1678+11insGACCACCGAGA | XP_006721579.2:n.1678+10_1678+11insGACCACCGAGA | |
| XM_011523829.1:c.1576+10_1576+11insGACCACCGAGA | XP_011522131.1:n.1576+10_1576+11insGACCACCGAGA | |
| XM_011523830.1:c.1576+10_1576+11insGACCACCGAGA | XP_011522132.1:n.1576+10_1576+11insGACCACCGAGA | |
| XR_934021.1:n.1781+10_1781+11insGACCACCGAGA | ||
| XR_934022.1:n.1687+10_1687+11insGACCACCGAGA | ||
| XR_934023.1:n.1687+10_1687+11insGACCACCGAGA | ||
| XM_006721516.3:c.1678+10_1678+11insGACCACCGAGA | XP_006721579.2:n.1678+10_1678+11insGACCACCGAGA | |
| XM_011523829.2:c.1576+10_1576+11insGACCACCGAGA | XP_011522131.1:n.1576+10_1576+11insGACCACCGAGA | |
| XM_011523830.2:c.1576+10_1576+11insGACCACCGAGA | XP_011522132.1:n.1576+10_1576+11insGACCACCGAGA | |
| XM_024450741.1:c.1666+10_1666+11insGACCACCGAGA | XP_024306509.1:n.1666+10_1666+11insGACCACCGAGA | |
| XR_934021.2:n.1733+10_1733+11insGACCACCGAGA | ||
| XR_934022.2:n.1639+10_1639+11insGACCACCGAGA | ||
| XR_934023.2:n.1639+10_1639+11insGACCACCGAGA | ||
| NM_000018.4:c.1678+10_1678+11insGACCACCGAGA MANE Select | NP_000009.1:n.1678+10_1678+11insGACCACCGAGA | |
| NM_001033859.3:c.1612+10_1612+11insGACCACCGAGA | NP_001029031.1:n.1612+10_1612+11insGACCACCGAGA | |
| NM_001270447.2:c.1747+10_1747+11insGACCACCGAGA | NP_001257376.1:n.1747+10_1747+11insGACCACCGAGA | |
| NM_001270448.2:c.1450+10_1450+11insGACCACCGAGA | NP_001257377.1:n.1450+10_1450+11insGACCACCGAGA |