Linked Data
dbSNP Id:
rs80338888
gnomAD v3:
7-100627386-G-GCTGGGCCACGGC
gnomAD v4:
7-100627386-G-GCTGGGCCACGGC
MyVariant Identifiers:
chr7:g.100225009_100225010insCTGGGCCACGGC (hg19)
chr7:g.100627386_100627387insCTGGGCCACGGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100627399_100627410dup , CM000669.2:g.100627399_100627410dup | GRCh38 |
| NC_000007.13:g.100225022_100225033dup , CM000669.1:g.100225022_100225033dup | GRCh37 |
| NC_000007.12:g.100062958_100062969dup | NCBI36 |
| NG_007989.1:g.19153_19164dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000223051.8:c.1861_1872dup MANE Select | ENSP00000223051.3:p.Gln624_Leu625insAlaVa... | |
| ENST00000223051.7:c.1861_1872dup | ENSP00000223051.3:p.Gln624_Leu625insAlaVa... | |
| ENST00000431692.5:c.*536_*547dup | ENSP00000413905.1:n.*536_*547dup | |
| ENST00000461176.1:n.207_218dup | ||
| ENST00000462090.5:n.897_908dup | ||
| ENST00000462107.1:c.1861_1872dup | ENSP00000420525.1:p.Gln624_Leu625insAlaVa... | |
| ENST00000465294.5:n.1781_1792dup | ||
| ENST00000476304.5:n.1482_1493dup | ||
| ENST00000490084.5:c.1214_1225dup | ||
| NM_001206855.1:c.1348_1359dup | NP_001193784.1:p.Gln453_Leu454insAlaValAl... | |
| NM_003227.3:c.1861_1872dup | NP_003218.2:p.Gln624_Leu625insAlaValAlaGl... | |
| XM_005250553.3:c.1861_1872dup | XP_005250610.1:p.Gln624_Leu625insAlaValAl... | |
| XM_005250554.3:c.1861_1872dup | XP_005250611.1:p.Gln624_Leu625insAlaValAl... | |
| XR_927814.1:n.434-3757_434-3746dup | ||
| NM_001206855.2:c.1348_1359dup | NP_001193784.1:p.Gln453_Leu454insAlaValAl... | |
| XM_005250553.4:c.1861_1872dup | XP_005250610.1:p.Gln624_Leu625insAlaValAl... | |
| XM_017012573.1:c.1861_1872dup | XP_016868062.1:p.Gln624_Leu625insAlaValAl... | |
| NM_003227.4:c.1861_1872dup MANE Select | NP_003218.2:p.Gln624_Leu625insAlaValAlaGl... | |
| NM_001206855.3:c.1348_1359dup | NP_001193784.1:p.Gln453_Leu454insAlaValAl... |