Linked Data
dbSNP Id:
rs2071196048
gnomAD v3:
17-7221168-CCCTGGGTGCCTGT-C
gnomAD v4:
17-7221168-CCCTGGGTGCCTGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221169_7221181del , CM000679.2:g.7221169_7221181del | GRCh38 |
| NC_000017.10:g.7124488_7124500del , CM000679.1:g.7124488_7124500del | GRCh37 |
| NC_000017.9:g.7065212_7065224del | NCBI36 |
| NG_007975.1:g.6336_6348del | |
| NG_008391.2:g.3870_3882del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.477+111_477+123del MANE Select | ENSP00000349297.5:n.477+111_477+123del | |
| ENST00000322910.9:c.*432+111_*432+123del | ENSP00000325395.5:n.*432+111_*432+123del | |
| ENST00000350303.9:c.411+111_411+123del | ENSP00000344152.5:n.411+111_411+123del | |
| ENST00000356839.9:c.477+111_477+123del | ENSP00000349297.5:n.477+111_477+123del | |
| ENST00000543245.6:c.546+111_546+123del | ENSP00000438689.2:n.546+111_546+123del | |
| ENST00000577191.5:n.554+111_554+123del | ||
| ENST00000577433.5:n.685+111_685+123del | ||
| ENST00000577857.5:n.293+339_293+351del | ||
| ENST00000579286.5:n.658+111_658+123del | ||
| ENST00000579886.2:c.315+111_315+123del | ENSP00000463246.1:n.315+111_315+123del | |
| ENST00000580365.1:n.208+111_208+123del | ||
| ENST00000581378.5:c.176+111_176+123del | ||
| ENST00000581562.5:n.524+111_524+123del | ||
| ENST00000582166.1:n.458+111_458+123del | ||
| ENST00000583312.5:c.477+111_477+123del | ENSP00000467920.1:n.477+111_477+123del | |
| NM_000018.3:c.477+111_477+123del | NP_000009.1:n.477+111_477+123del | |
| NM_001033859.2:c.411+111_411+123del | NP_001029031.1:n.411+111_411+123del | |
| NM_001270447.1:c.546+111_546+123del | NP_001257376.1:n.546+111_546+123del | |
| NM_001270448.1:c.249+111_249+123del | NP_001257377.1:n.249+111_249+123del | |
| XM_006721516.2:c.477+111_477+123del | XP_006721579.2:n.477+111_477+123del | |
| XM_011523829.1:c.477+111_477+123del | XP_011522131.1:n.477+111_477+123del | |
| XM_011523830.1:c.477+111_477+123del | XP_011522132.1:n.477+111_477+123del | |
| XR_934021.1:n.584+111_584+123del | ||
| XR_934022.1:n.584+111_584+123del | ||
| XR_934023.1:n.584+111_584+123del | ||
| XM_006721516.3:c.477+111_477+123del | XP_006721579.2:n.477+111_477+123del | |
| XM_011523829.2:c.477+111_477+123del | XP_011522131.1:n.477+111_477+123del | |
| XM_011523830.2:c.477+111_477+123del | XP_011522132.1:n.477+111_477+123del | |
| XM_024450741.1:c.477+111_477+123del | XP_024306509.1:n.477+111_477+123del | |
| XR_934021.2:n.536+111_536+123del | ||
| XR_934022.2:n.536+111_536+123del | ||
| XR_934023.2:n.536+111_536+123del | ||
| NM_000018.4:c.477+111_477+123del MANE Select | NP_000009.1:n.477+111_477+123del | |
| NM_001033859.3:c.411+111_411+123del | NP_001029031.1:n.411+111_411+123del | |
| NM_001270447.2:c.546+111_546+123del | NP_001257376.1:n.546+111_546+123del | |
| NM_001270448.2:c.249+111_249+123del | NP_001257377.1:n.249+111_249+123del |