Linked Data
dbSNP Id:
rs1279534062
MyVariant Identifiers:
chr7:g.19156676_19156677insCGCCGCCCG (hg19)
chr7:g.19117053_19117054insCGCCGCCCG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117061_19117069dup , CM000669.2:g.19117061_19117069dup | GRCh38 |
| NC_000007.13:g.19156684_19156692dup , CM000669.1:g.19156684_19156692dup | GRCh37 |
| NC_000007.12:g.19123209_19123217dup | NCBI36 |
| NG_008114.1:g.5611_5619dup | |
| NG_008114.2:g.5611_5619dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.260_268dup MANE Select | ENSP00000242261.5:p.Gly89_Gly90insAlaGlyGly | |
| ENST00000242261.5:c.260_268dup | ENSP00000242261.5:p.Gly89_Gly90insAlaGlyGly | |
| ENST00000354571.5:c.57_65dup | ||
| NM_000474.3:c.260_268dup | NP_000465.1:p.Gly89_Gly90insAlaGlyGly | |
| XM_011515496.1:c.260_268dup | XP_011513798.1:p.Gly89_Gly90insAlaGlyGly | |
| NR_149001.1:n.611_619dup | ||
| NM_000474.4:c.260_268dup MANE Select | NP_000465.1:p.Gly89_Gly90insAlaGlyGly | |
| NR_149001.2:n.575_583dup |