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:
634609
ClinVar RCV Id:
RCV000785134
dbSNP Id:
rs747993450
ExAC:
2:32289207 T / TCGGCCC
gnomAD v2:
2-32289207-T-TCGGCCC
gnomAD v3:
2-32064138-T-TCGGCCC
gnomAD v4:
2-32064138-T-TCGGCCC
MyVariant Identifiers:
chr2:g.32289207_32289208insCGGCCC (hg19)
chr2:g.32064138_32064139insCGGCCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32064143_32064148dup , CM000664.2:g.32064143_32064148dup | GRCh38 |
| NC_000002.11:g.32289212_32289217dup , CM000664.1:g.32289212_32289217dup | GRCh37 |
| NC_000002.10:g.32142716_32142721dup | NCBI36 |
| NG_008730.1:g.5533_5538dup , LRG_714:g.5533_5538dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000704289.1:c.312_317dup | ENSP00000515816.1:p.Ala106_Pro107insProAl... | |
| ENST00000315285.9:c.312_317dup MANE Select | ENSP00000320885.3:p.Ala106_Pro107insProAl... | |
| ENST00000621856.2:c.312_317dup | ENSP00000482496.2:p.Ala106_Pro107insProAl... | |
| ENST00000642281.1:c.196_201dup | ||
| ENST00000642455.1:c.312_317dup | ENSP00000493827.1:p.Ala106_Pro107insProAl... | |
| ENST00000642751.1:c.182_187dup | ||
| ENST00000642999.1:c.54_59dup | ENSP00000496589.1:p.Ala20_Pro21insProAla | |
| ENST00000644408.1:c.188_193dup | ||
| ENST00000644954.1:c.54_59dup | ENSP00000494312.1:p.Ala20_Pro21insProAla | |
| ENST00000645400.1:c.153_158dup | ENSP00000496306.1:p.Ala53_Pro54insProAla | |
| ENST00000646082.1:c.146_151dup | ||
| ENST00000646571.1:c.312_317dup | ENSP00000495015.1:p.Ala106_Pro107insProAl... | |
| ENST00000315285.7:c.312_317dup | ENSP00000320885.3:p.Ala106_Pro107insProAl... | |
| ENST00000345662.5:c.312_317dup | ENSP00000340817.1:p.Ala106_Pro107insProAl... | |
| ENST00000615843.4:c.312_317dup | ENSP00000480893.1:p.Ala106_Pro107insProAl... | |
| ENST00000621856.1:c.54_59dup | ENSP00000482496.1:p.Ala20_Pro21insProAla | |
| NM_014946.3:c.312_317dup , LRG_714t1:c.312_317dup | NP_055761.2:p.Ala106_Pro107insProAla | |
| NM_199436.1:c.312_317dup | NP_955468.1:p.Ala106_Pro107insProAla | |
| XM_005264516.3:c.312_317dup | XP_005264573.1:p.Ala106_Pro107insProAla | |
| XM_011533067.1:c.312_317dup | XP_011531369.1:p.Ala106_Pro107insProAla | |
| NM_001363823.1:c.312_317dup | NP_001350752.1:p.Ala106_Pro107insProAla | |
| NM_001363875.1:c.312_317dup | NP_001350804.1:p.Ala106_Pro107insProAla | |
| XM_005264516.5:c.312_317dup | XP_005264573.1:p.Ala106_Pro107insProAla | |
| XM_011533067.2:c.312_317dup | XP_011531369.1:p.Ala106_Pro107insProAla | |
| XM_017004778.2:c.312_317dup | XP_016860267.1:p.Ala106_Pro107insProAla | |
| NM_001363823.2:c.312_317dup | NP_001350752.1:p.Ala106_Pro107insProAla | |
| NM_001363875.2:c.312_317dup | NP_001350804.1:p.Ala106_Pro107insProAla | |
| NM_001377959.1:c.312_317dup | NP_001364888.1:p.Ala106_Pro107insProAla | |
| NM_014946.4:c.312_317dup MANE Select | NP_055761.2:p.Ala106_Pro107insProAla | |
| NM_199436.2:c.312_317dup | NP_955468.1:p.Ala106_Pro107insProAla |