Linked Data
dbSNP Id:
rs1429675281
gnomAD v2:
15-89861618-C-CAACT
gnomAD v3:
15-89318387-C-CAACT
gnomAD v4:
15-89318387-C-CAACT
MyVariant Identifiers:
chr15:g.89861618_89861619insAACT (hg19)
chr15:g.89318387_89318388insAACT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89318388_89318391dup , CM000677.2:g.89318388_89318391dup | GRCh38 |
| NC_000015.9:g.89861619_89861622dup , CM000677.1:g.89861619_89861622dup | GRCh37 |
| NC_000015.8:g.87662623_87662626dup | NCBI36 |
| NG_008218.1:g.21405_21408dup | |
| NG_011736.1:g.79426_79429dup , LRG_500:g.79426_79429dup | |
| NG_008218.2:g.21405_21408dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.3482+150_3482+153dup | ENSP00000516154.1:n.3482+150_3482+153dup | |
| ENST00000268124.11:c.3482+150_3482+153dup MANE Select | ENSP00000268124.5:n.3482+150_3482+153dup | |
| ENST00000530292.3:c.3083+150_3083+153dup | ENSP00000432885.2:n.3083+150_3083+153dup | |
| ENST00000635986.2:c.*552+150_*552+153dup | ENSP00000490653.2:n.*552+150_*552+153dup | |
| ENST00000636774.1:c.*2049+150_*2049+153dup | ENSP00000489799.1:n.*2049+150_*2049+153dup | |
| ENST00000637238.1:c.2291+150_2291+153dup | ENSP00000490756.1:n.2291+150_2291+153dup | |
| ENST00000637264.1:c.2554+150_2554+153dup | ||
| ENST00000666746.1:c.3059+150_3059+153dup | ||
| ENST00000672071.1:n.3830_3833dup | ||
| ENST00000672695.1:n.809_812dup | ||
| ENST00000672923.2:n.3482+150_3482+153dup | ||
| ENST00000268124.9:c.3482+150_3482+153dup | ENSP00000268124.5:n.3482+150_3482+153dup | |
| ENST00000442287.6:c.3482+150_3482+153dup | ENSP00000399851.2:n.3482+150_3482+153dup | |
| ENST00000530292.2:c.566+150_566+153dup | ENSP00000432885.1:n.566+150_566+153dup | |
| ENST00000631044.2:c.*2906+150_*2906+153dup | ENSP00000486730.1:n.*2906+150_*2906+153dup | |
| NM_001126131.1:c.3482+150_3482+153dup | NP_001119603.1:n.3482+150_3482+153dup | |
| NM_002693.2:c.3482+150_3482+153dup | NP_002684.1:n.3482+150_3482+153dup | |
| NM_001126131.2:c.3482+150_3482+153dup | NP_001119603.1:n.3482+150_3482+153dup | |
| NM_002693.3:c.3482+150_3482+153dup MANE Select | NP_002684.1:n.3482+150_3482+153dup |