Linked Data
dbSNP Id:
rs2071386201
gnomAD v2:
17-7127875-AG-A
gnomAD v3:
17-7224556-AG-A
gnomAD v4:
17-7224556-AG-A
MyVariant Identifiers:
chr17:g.7127876del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224557del , CM000679.2:g.7224557del | GRCh38 |
| NC_000017.10:g.7127876del , CM000679.1:g.7127876del | GRCh37 |
| NC_000017.9:g.7068600del | NCBI36 |
| NG_007975.1:g.9724del | |
| NG_008391.2:g.494del | |
| NG_033038.1:g.14988del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1678+5del MANE Select | ENSP00000349297.5:n.1678+5del | |
| ENST00000322910.9:c.*1633+5del | ENSP00000325395.5:n.*1633+5del | |
| ENST00000350303.9:c.1612+5del | ENSP00000344152.5:n.1612+5del | |
| ENST00000356839.9:c.1678+5del | ENSP00000349297.5:n.1678+5del | |
| ENST00000542255.6:c.536+5del | ||
| ENST00000543245.6:c.1747+5del | ENSP00000438689.2:n.1747+5del | |
| ENST00000578319.5:n.259+5del | ||
| ENST00000578711.1:n.1053del | ||
| ENST00000578809.5:n.250+5del | ||
| ENST00000579391.1:n.287del | ||
| ENST00000579425.5:n.794+5del | ||
| ENST00000579546.1:c.413+5del | ||
| ENST00000582450.1:n.191del | ||
| ENST00000583074.5:n.299+5del | ||
| ENST00000583848.5:c.64+5del | ENSP00000466487.1:n.64+5del | |
| ENST00000583850.5:n.449+5del | ||
| ENST00000583858.5:c.609+5del | ||
| ENST00000585203.6:n.869+5del | ||
| NM_000018.3:c.1678+5del | NP_000009.1:n.1678+5del | |
| NM_001033859.2:c.1612+5del | NP_001029031.1:n.1612+5del | |
| NM_001270447.1:c.1747+5del | NP_001257376.1:n.1747+5del | |
| NM_001270448.1:c.1450+5del | NP_001257377.1:n.1450+5del | |
| XM_006721516.2:c.1678+5del | XP_006721579.2:n.1678+5del | |
| XM_011523829.1:c.1576+5del | XP_011522131.1:n.1576+5del | |
| XM_011523830.1:c.1576+5del | XP_011522132.1:n.1576+5del | |
| XR_934021.1:n.1781+5del | ||
| XR_934022.1:n.1687+5del | ||
| XR_934023.1:n.1687+5del | ||
| XM_006721516.3:c.1678+5del | XP_006721579.2:n.1678+5del | |
| XM_011523829.2:c.1576+5del | XP_011522131.1:n.1576+5del | |
| XM_011523830.2:c.1576+5del | XP_011522132.1:n.1576+5del | |
| XM_024450741.1:c.1666+5del | XP_024306509.1:n.1666+5del | |
| XR_934021.2:n.1733+5del | ||
| XR_934022.2:n.1639+5del | ||
| XR_934023.2:n.1639+5del | ||
| NM_000018.4:c.1678+5del MANE Select | NP_000009.1:n.1678+5del | |
| NM_001033859.3:c.1612+5del | NP_001029031.1:n.1612+5del | |
| NM_001270447.2:c.1747+5del | NP_001257376.1:n.1747+5del | |
| NM_001270448.2:c.1450+5del | NP_001257377.1:n.1450+5del |