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:
56346
ClinVar RCV Id:
RCV000049759
dbSNP Id:
rs386833794
gnomAD v3:
14-22775530-CAAAG-C
gnomAD v4:
14-22775530-CAAAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.22775534_22775537del , CM000676.2:g.22775534_22775537del | GRCh38 |
| NC_000014.8:g.23244743_23244746del , CM000676.1:g.23244743_23244746del | GRCh37 |
| NC_000014.7:g.22314583_22314586del | NCBI36 |
| NG_012851.2:g.59287_59290del , LRG_695:g.59287_59290del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000555911.2:c.1005_1008del | ENSP00000452551.2:p.Phe335LeufsTer15 | |
| ENST00000698939.1:c.*71_*74del | ENSP00000514047.1:n.*71_*74del | |
| ENST00000698940.1:n.67_70del | ||
| ENST00000397532.9:c.1005_1008del | ENSP00000380666.4:p.Phe335LeufsTer15 | |
| ENST00000674313.1:c.1005_1008del MANE Select | ENSP00000501493.1:p.Phe335LeufsTer15 | |
| ENST00000285850.11:c.1005_1008del | ENSP00000285850.7:p.Phe335LeufsTer15 | |
| ENST00000397528.8:c.1005_1008del | ENSP00000380662.4:p.Phe335LeufsTer15 | |
| ENST00000397529.6:c.1005_1008del | ENSP00000380663.2:p.Phe335LeufsTer15 | |
| ENST00000397532.7:c.1005_1008del | ENSP00000380666.3:p.Phe335LeufsTer15 | |
| ENST00000554061.5:n.676_679del | ||
| ENST00000554517.5:c.207_210del | ENSP00000452083.1:p.Phe69LeufsTer15 | |
| ENST00000555678.1:n.266_269del | ||
| ENST00000555702.5:c.1005_1008del | ENSP00000451881.1:p.Phe335LeufsTer15 | |
| ENST00000556287.5:c.901_904del | ENSP00000450715.1:p.Leu301ValfsTer? | |
| ENST00000556350.1:c.149_152del | ||
| NM_001126105.2:c.1005_1008del , LRG_695t1:c.1005_1008del | NP_001119577.1:p.Phe335LeufsTer15 | |
| NM_001126106.2:c.1005_1008del , LRG_695t2:c.1005_1008del | NP_001119578.1:p.Phe335LeufsTer15 | |
| NR_040448.1:n.1620_1623del | ||
| XM_006720302.1:c.1005_1008del | XP_006720365.1:p.Phe335LeufsTer15 | |
| XM_011537298.1:c.1005_1008del | XP_011535600.1:p.Phe335LeufsTer15 | |
| XM_011537299.1:c.1005_1008del | XP_011535601.1:p.Phe335LeufsTer15 | |
| XM_006720302.2:c.1005_1008del | XP_006720365.1:p.Phe335LeufsTer15 | |
| XM_011537298.3:c.1005_1008del | XP_011535600.1:p.Phe335LeufsTer15 | |
| NM_001126105.3:c.1005_1008del | NP_001119577.1:p.Phe335LeufsTer15 | |
| NM_001126106.4:c.1005_1008del | NP_001119578.1:p.Phe335LeufsTer15 | |
| NM_003982.4:c.1005_1008del MANE Select | NP_003973.3:p.Phe335LeufsTer15 |