UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
943198
ClinVar RCV Id:
RCV001213341
dbSNP Id:
rs1247360325
gnomAD v2:
17-7123970-A-AG
gnomAD v4:
17-7220651-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7220652dup , CM000679.2:g.7220652dup | GRCh38 |
| NC_000017.10:g.7123971dup , CM000679.1:g.7123971dup | GRCh37 |
| NC_000017.9:g.7064695dup | NCBI36 |
| NG_007975.1:g.5819dup | |
| NG_008391.2:g.4399dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.253dup MANE Select | ENSP00000349297.5:p.Asp85GlyfsTer19 | |
| ENST00000322910.9:c.*208dup | ENSP00000325395.5:n.*208dup | |
| ENST00000350303.9:c.187dup | ENSP00000344152.5:p.Asp63GlyfsTer19 | |
| ENST00000356839.9:c.253dup | ENSP00000349297.5:p.Asp85GlyfsTer19 | |
| ENST00000543245.6:c.322dup | ENSP00000438689.2:p.Asp108GlyfsTer19 | |
| ENST00000577191.5:n.330dup | ||
| ENST00000577433.5:n.461dup | ||
| ENST00000577857.5:n.229-114dup | ||
| ENST00000578269.5:n.700dup | ||
| ENST00000578421.1:n.461dup | ||
| ENST00000579286.5:n.434dup | ||
| ENST00000579886.2:c.201+126dup | ENSP00000463246.1:n.201+126dup | |
| ENST00000580263.5:n.417dup | ||
| ENST00000581562.5:n.300dup | ||
| ENST00000582056.5:n.343dup | ||
| ENST00000582166.1:n.141dup | ||
| ENST00000582356.5:n.452dup | ||
| ENST00000583312.5:c.253dup | ENSP00000467920.1:p.Asp85GlyfsTer19 | |
| ENST00000584103.5:c.253dup | ENSP00000465353.1:p.Asp85GlyfsTer19 | |
| NM_000018.3:c.253dup | NP_000009.1:p.Asp85GlyfsTer19 | |
| NM_001033859.2:c.187dup | NP_001029031.1:p.Asp63GlyfsTer19 | |
| NM_001270447.1:c.322dup | NP_001257376.1:p.Asp108GlyfsTer19 | |
| NM_001270448.1:c.25dup | NP_001257377.1:p.Asp9GlyfsTer19 | |
| XM_006721516.2:c.253dup | XP_006721579.2:p.Asp85GlyfsTer19 | |
| XM_011523829.1:c.253dup | XP_011522131.1:p.Asp85GlyfsTer19 | |
| XM_011523830.1:c.253dup | XP_011522132.1:p.Asp85GlyfsTer19 | |
| XR_934021.1:n.360dup | ||
| XR_934022.1:n.360dup | ||
| XR_934023.1:n.360dup | ||
| XM_006721516.3:c.253dup | XP_006721579.2:p.Asp85GlyfsTer19 | |
| XM_011523829.2:c.253dup | XP_011522131.1:p.Asp85GlyfsTer19 | |
| XM_011523830.2:c.253dup | XP_011522132.1:p.Asp85GlyfsTer19 | |
| XM_024450741.1:c.253dup | XP_024306509.1:p.Asp85GlyfsTer19 | |
| XR_934021.2:n.312dup | ||
| XR_934022.2:n.312dup | ||
| XR_934023.2:n.312dup | ||
| NM_000018.4:c.253dup MANE Select | NP_000009.1:p.Asp85GlyfsTer19 | |
| NM_001033859.3:c.187dup | NP_001029031.1:p.Asp63GlyfsTer19 | |
| NM_001270447.2:c.322dup | NP_001257376.1:p.Asp108GlyfsTer19 | |
| NM_001270448.2:c.25dup | NP_001257377.1:p.Asp9GlyfsTer19 |