Linked Data
dbSNP Id:
rs2077954841
gnomAD v3:
2-135833346-A-AACACACTTCTCGGGGGATTCTG
gnomAD v4:
2-135833346-A-AACACACTTCTCGGGGGATTCTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135833347_135833348insCACACTTCTCGGGGGATTCTGA , CM000664.2:g.135833347_135833348insCACACTTCTCGGGGGATTCTGA | GRCh38 |
| NC_000002.11:g.136590917_136590918insCACACTTCTCGGGGGATTCTGA , CM000664.1:g.136590917_136590918insCACACTTCTCGGGGGATTCTGA | GRCh37 |
| NC_000002.10:g.136307387_136307388insCACACTTCTCGGGGGATTCTGA | NCBI36 |
| NG_008104.2:g.26823_26824insCAGAATCCCCCGAGAAGTGTGT , LRG_338:g.26823_26824insCAGAATCCCCCGAGAAGTGTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264162.7:c.641-157_641-156insCAGAATCCCCCGAGAAGTGTGT MANE Select | ENSP00000264162.2:n.641-157_641-156insCAGAATCCCCCGAGAAGTGTGT | |
| ENST00000264162.6:c.641-157_641-156insCAGAATCCCCCGAGAAGTGTGT | ENSP00000264162.2:n.641-157_641-156insCAGAATCCCCCGAGAAGTGTGT | |
| NM_002299.2:c.641-157_641-156insCAGAATCCCCCGAGAAGTGTGT , LRG_338t1:c.641-157_641-156insCAGAATCCCCCGAGAAGTGTGT | NP_002290.2:n.641-157_641-156insCAGAATCCCCCGAGAAGTGTGT | |
| NM_002299.3:c.641-157_641-156insCAGAATCCCCCGAGAAGTGTGT | NP_002290.2:n.641-157_641-156insCAGAATCCCCCGAGAAGTGTGT | |
| XM_017004088.2:c.641-157_641-156insCAGAATCCCCCGAGAAGTGTGT | XP_016859577.1:n.641-157_641-156insCAGAATCCCCCGAGAAGTGTGT | |
| NM_002299.4:c.641-157_641-156insCAGAATCCCCCGAGAAGTGTGT MANE Select | NP_002290.2:n.641-157_641-156insCAGAATCCCCCGAGAAGTGTGT |