Linked Data
dbSNP Id:
rs766361142
gnomAD v2:
7-19156673-C-CCGCCGCCGCCCG
gnomAD v3:
7-19117050-C-CCGCCGCCGCCCG
gnomAD v4:
7-19117050-C-CCGCCGCCGCCCG
MyVariant Identifiers:
chr7:g.19156673_19156674insCGCCGCCGCCCG (hg19)
chr7:g.19117050_19117051insCGCCGCCGCCCG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117061_19117072dup , CM000669.2:g.19117061_19117072dup | GRCh38 |
| NC_000007.13:g.19156684_19156695dup , CM000669.1:g.19156684_19156695dup | GRCh37 |
| NC_000007.12:g.19123209_19123220dup | NCBI36 |
| NG_008114.1:g.5611_5622dup | |
| NG_008114.2:g.5611_5622dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.260_271dup MANE Select | ENSP00000242261.5:p.Gly90_Gly91insAlaGlyGlyGly | |
| ENST00000242261.5:c.260_271dup | ENSP00000242261.5:p.Gly90_Gly91insAlaGlyGlyGly | |
| ENST00000354571.5:c.57_68dup | ||
| NM_000474.3:c.260_271dup | NP_000465.1:p.Gly90_Gly91insAlaGlyGlyGly | |
| XM_011515496.1:c.260_271dup | XP_011513798.1:p.Gly90_Gly91insAlaGlyGlyGly | |
| NR_149001.1:n.611_622dup | ||
| NM_000474.4:c.260_271dup MANE Select | NP_000465.1:p.Gly90_Gly91insAlaGlyGlyGly | |
| NR_149001.2:n.575_586dup |