Linked Data
dbSNP Id:
rs145381116
MyVariant Identifiers:
chr17:g.48263177_48263178insGGG (hg19)
chr17:g.50185816_50185817insGGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50185817_50185818insGGG , CM000679.2:g.50185817_50185818insGGG | GRCh38 |
| NC_000017.10:g.48263178_48263179insGGG , CM000679.1:g.48263178_48263179insGGG | GRCh37 |
| NC_000017.9:g.45618177_45618178insGGG | NCBI36 |
| NG_007400.1:g.20823_20824insCCC , LRG_1:g.20823_20824insCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.4209_4210insCCC MANE Select | ENSP00000225964.6:p.Asn1403_Ser1404insPro | |
| ENST00000225964.9:c.4209_4210insCCC | ENSP00000225964.5:p.Asn1403_Ser1404insPro | |
| NM_000088.3:c.4209_4210insCCC , LRG_1t1:c.4209_4210insCCC | NP_000079.2:p.Asn1403_Ser1404insPro | |
| XM_005257058.3:c.3939_3940insCCC | XP_005257115.2:p.Asn1313_Ser1314insPro | |
| XM_005257059.3:c.3291_3292insCCC | XP_005257116.2:p.Asn1097_Ser1098insPro | |
| XM_011524341.1:c.4011_4012insCCC | XP_011522643.1:p.Asn1337_Ser1338insPro | |
| XM_005257058.4:c.3939_3940insCCC | XP_005257115.2:p.Asn1313_Ser1314insPro | |
| XM_005257059.4:c.3291_3292insCCC | XP_005257116.2:p.Asn1097_Ser1098insPro | |
| NM_000088.4:c.4209_4210insCCC MANE Select | NP_000079.2:p.Asn1403_Ser1404insPro |