Linked Data
dbSNP Id:
rs1286775912
gnomAD v2:
7-19156656-C-CGCCGCTGCTGCT
gnomAD v3:
7-19117033-C-CGCCGCTGCTGCT
gnomAD v4:
7-19117033-C-CGCCGCTGCTGCT
MyVariant Identifiers:
chr7:g.19156656_19156657insGCCGCTGCTGCT (hg19)
chr7:g.19117033_19117034insGCCGCTGCTGCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117039_19117050dup , CM000669.2:g.19117039_19117050dup | GRCh38 |
| NC_000007.13:g.19156662_19156673dup , CM000669.1:g.19156662_19156673dup | GRCh37 |
| NC_000007.12:g.19123187_19123198dup | NCBI36 |
| NG_008114.1:g.5628_5639dup | |
| NG_008114.2:g.5628_5639dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.277_288dup MANE Select | ENSP00000242261.5:p.Gly96_Gly97insSerSerSerGly | |
| ENST00000242261.5:c.277_288dup | ENSP00000242261.5:p.Gly96_Gly97insSerSerSerGly | |
| ENST00000354571.5:c.74_85dup | ||
| NM_000474.3:c.277_288dup | NP_000465.1:p.Gly96_Gly97insSerSerSerGly | |
| XM_011515496.1:c.277_288dup | XP_011513798.1:p.Gly96_Gly97insSerSerSerGly | |
| NR_149001.1:n.628_639dup | ||
| NM_000474.4:c.277_288dup MANE Select | NP_000465.1:p.Gly96_Gly97insSerSerSerGly | |
| NR_149001.2:n.592_603dup |