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:
188724
ClinVar RCV Id:
RCV000169022
dbSNP Id:
rs786204427
MyVariant Identifiers:
chr15:g.40703456_40703457delinsGG (hg19)
chr15:g.40411257_40411258delinsGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40411257_40411258delinsGG , CM000677.2:g.40411257_40411258delinsGG | GRCh38 |
| NC_000015.9:g.40703456_40703457delinsGG , CM000677.1:g.40703456_40703457delinsGG | GRCh37 |
| NC_000015.8:g.38490748_38490749delinsGG | NCBI36 |
| NG_011986.1:g.10771_10772delinsGG | |
| NG_011986.2:g.10773_10774delinsGG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000479013.7:c.367-3_367-2delinsGG | ENSP00000417990.3:n.367-3_367-2delinsGG | |
| ENST00000487418.8:c.457-3_457-2delinsGG MANE Select | ENSP00000418397.3:n.457-3_457-2delinsGG | |
| ENST00000610693.5:c.544-3_544-2delinsGG | ENSP00000479359.2:n.544-3_544-2delinsGG | |
| ENST00000650656.1:c.376-3_376-2delinsGG | ENSP00000498731.1:n.376-3_376-2delinsGG | |
| ENST00000651168.1:c.466-3_466-2delinsGG | ENSP00000499074.1:n.466-3_466-2delinsGG | |
| ENST00000473112.6:c.216-3_216-2delinsGG | ||
| ENST00000479013.6:c.376-3_376-2delinsGG | ENSP00000417990.2:n.376-3_376-2delinsGG | |
| ENST00000481262.6:c.63-3_63-2delinsGG | ||
| ENST00000484250.1:n.80-3_80-2delinsGG | ||
| ENST00000487418.6:c.466-3_466-2delinsGG | ENSP00000418397.2:n.466-3_466-2delinsGG | |
| ENST00000558610.5:c.409-3_409-2delinsGG | ENSP00000453821.1:n.409-3_409-2delinsGG | |
| ENST00000610693.4:c.553-3_553-2delinsGG | ENSP00000479359.1:n.553-3_553-2delinsGG | |
| NM_001159508.1:c.376-3_376-2delinsGG | NP_001152980.1:n.376-3_376-2delinsGG | |
| NM_002225.3:c.466-3_466-2delinsGG | NP_002216.2:n.466-3_466-2delinsGG | |
| XM_005254350.2:c.466-3_466-2delinsGG | XP_005254407.1:n.466-3_466-2delinsGG | |
| XM_005254356.2:c.466-3_466-2delinsGG | XP_005254413.1:n.466-3_466-2delinsGG | |
| XM_006720491.2:c.409-3_409-2delinsGG | XP_006720554.1:n.409-3_409-2delinsGG | |
| XM_006720492.2:c.466-3_466-2delinsGG | XP_006720555.1:n.466-3_466-2delinsGG | |
| XM_006720493.2:c.466-3_466-2delinsGG | XP_006720556.1:n.466-3_466-2delinsGG | |
| XM_006720494.2:c.466-3_466-2delinsGG | XP_006720557.1:n.466-3_466-2delinsGG | |
| XM_006720495.2:c.466-3_466-2delinsGG | XP_006720558.1:n.466-3_466-2delinsGG | |
| XM_011521523.1:c.466-3_466-2delinsGG | XP_011519825.1:n.466-3_466-2delinsGG | |
| XM_011521524.1:c.466-3_466-2delinsGG | XP_011519826.1:n.466-3_466-2delinsGG | |
| XR_243097.3:n.466-3_466-2delinsGG | ||
| XR_243098.2:n.466-3_466-2delinsGG | ||
| XR_429453.2:n.567-3_567-2delinsGG | ||
| NM_001159508.2:c.367-3_367-2delinsGG | NP_001152980.2:n.367-3_367-2delinsGG | |
| NM_001354597.2:c.409-3_409-2delinsGG | NP_001341526.1:n.409-3_409-2delinsGG | |
| NM_001354598.2:c.457-3_457-2delinsGG | NP_001341527.2:n.457-3_457-2delinsGG | |
| NM_001354599.2:c.544-3_544-2delinsGG | NP_001341528.2:n.544-3_544-2delinsGG | |
| NM_001354600.2:c.544-3_544-2delinsGG | NP_001341529.2:n.544-3_544-2delinsGG | |
| NM_001354601.2:c.457-3_457-2delinsGG | NP_001341530.2:n.457-3_457-2delinsGG | |
| NM_002225.4:c.457-3_457-2delinsGG | NP_002216.3:n.457-3_457-2delinsGG | |
| NR_148925.1:n.867-3_867-2delinsGG | ||
| XM_006720495.3:c.466-3_466-2delinsGG | XP_006720558.1:n.466-3_466-2delinsGG | |
| XM_017022149.1:c.553-3_553-2delinsGG | XP_016877638.1:n.553-3_553-2delinsGG | |
| XM_017022150.1:c.553-3_553-2delinsGG | XP_016877639.1:n.553-3_553-2delinsGG | |
| XM_017022153.1:c.553-3_553-2delinsGG | XP_016877642.1:n.553-3_553-2delinsGG | |
| XM_017022154.2:c.496-3_496-2delinsGG | XP_016877643.1:n.496-3_496-2delinsGG | |
| XM_017022155.2:c.553-3_553-2delinsGG | XP_016877644.1:n.553-3_553-2delinsGG | |
| XM_017022157.1:c.553-3_553-2delinsGG | XP_016877646.1:n.553-3_553-2delinsGG | |
| XM_017022158.2:c.553-3_553-2delinsGG | XP_016877647.1:n.553-3_553-2delinsGG | |
| XR_001751263.1:n.816-3_816-2delinsGG | ||
| XR_001751264.1:n.857-3_857-2delinsGG | ||
| NM_001159508.3:c.367-3_367-2delinsGG | NP_001152980.2:n.367-3_367-2delinsGG | |
| NM_001354597.3:c.409-3_409-2delinsGG | NP_001341526.1:n.409-3_409-2delinsGG | |
| NM_001354598.3:c.457-3_457-2delinsGG | NP_001341527.2:n.457-3_457-2delinsGG | |
| NM_001354599.3:c.544-3_544-2delinsGG | NP_001341528.2:n.544-3_544-2delinsGG | |
| NM_001354600.3:c.544-3_544-2delinsGG | NP_001341529.2:n.544-3_544-2delinsGG | |
| NM_001354601.3:c.457-3_457-2delinsGG | NP_001341530.2:n.457-3_457-2delinsGG | |
| NM_002225.5:c.457-3_457-2delinsGG MANE Select | NP_002216.3:n.457-3_457-2delinsGG | |
| NR_148925.2:n.869-3_869-2delinsGG |