Linked Data
gnomAD v3:
2-26480954-G-GATCTCGGTGGTCGCCGTATCA
gnomAD v4:
2-26480954-G-GATCTCGGTGGTCGCCGTATCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26480954_26480955insATCTCGGTGGTCGCCGTATCA , CM000664.2:g.26480954_26480955insATCTCGGTGGTCGCCGTATCA | GRCh38 |
| NC_000002.11:g.26703822_26703823insATCTCGGTGGTCGCCGTATCA , CM000664.1:g.26703822_26703823insATCTCGGTGGTCGCCGTATCA | GRCh37 |
| NC_000002.10:g.26557326_26557327insATCTCGGTGGTCGCCGTATCA | NCBI36 |
| NG_009937.1:g.82744_82745insTGATACGGCGACCACCGAGAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.1634_1635insTGATACGGCGACCACCGAGAT MANE Select | ENSP00000272371.2:p.Asn545_Tyr546insAspThrAlaThrThrGluIle | |
| ENST00000272371.6:c.1634_1635insTGATACGGCGACCACCGAGAT | ENSP00000272371.2:p.Asn545_Tyr546insAspThrAlaThrThrGluIle | |
| ENST00000403946.7:c.1634_1635insTGATACGGCGACCACCGAGAT | ENSP00000385255.3:p.Asn545_Tyr546insAspThrAlaThrThrGluIle | |
| NM_001287489.1:c.1634_1635insTGATACGGCGACCACCGAGAT | NP_001274418.1:p.Asn545_Tyr546insAspThrAlaThrThrGluIle | |
| NM_194248.2:c.1634_1635insTGATACGGCGACCACCGAGAT | NP_919224.1:p.Asn545_Tyr546insAspThrAlaThrThrGluIle | |
| XM_005264644.2:c.1679_1680insTGATACGGCGACCACCGAGAT | XP_005264701.1:p.Asn560_Tyr561insAspThrAlaThrThrGluIle | |
| XM_011533185.1:c.1679_1680insTGATACGGCGACCACCGAGAT | XP_011531487.1:p.Asn560_Tyr561insAspThrAlaThrThrGluIle | |
| XM_017005338.1:c.1634_1635insTGATACGGCGACCACCGAGAT | XP_016860827.1:p.Asn545_Tyr546insAspThrAlaThrThrGluIle | |
| NM_001287489.2:c.1634_1635insTGATACGGCGACCACCGAGAT | NP_001274418.1:p.Asn545_Tyr546insAspThrAlaThrThrGluIle | |
| NM_194248.3:c.1634_1635insTGATACGGCGACCACCGAGAT MANE Select | NP_919224.1:p.Asn545_Tyr546insAspThrAlaThrThrGluIle |