Linked Data
ClinVar Variation Id:
1664390
ClinVar RCV Id:
RCV002200820
dbSNP Id:
rs1332179238
gnomAD v2:
1-103444248-G-GCTGTAT
gnomAD v4:
1-102978692-G-GCTGTAT
MyVariant Identifiers:
chr1:g.103444248_103444249insCTGTAT (hg19)
chr1:g.102978692_102978693insCTGTAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102978694_102978699dup , CM000663.2:g.102978694_102978699dup | GRCh38 |
| NC_000001.10:g.103444250_103444255dup , CM000663.1:g.103444250_103444255dup | GRCh37 |
| NC_000001.9:g.103216838_103216843dup | NCBI36 |
| NG_008033.1:g.134799_134804dup | |
| NG_008033.2:g.134799_134804dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.2754+10_2754+15dup MANE Select | ENSP00000359114.3:n.2754+10_2754+15dup | |
| ENST00000353414.8:c.2637+10_2637+15dup | ENSP00000302551.6:n.2637+10_2637+15dup | |
| ENST00000358392.6:c.2790+10_2790+15dup | ENSP00000351163.2:n.2790+10_2790+15dup | |
| ENST00000370096.7:c.2754+10_2754+15dup | ENSP00000359114.3:n.2754+10_2754+15dup | |
| ENST00000512756.5:c.2406+10_2406+15dup | ENSP00000426533.1:n.2406+10_2406+15dup | |
| ENST00000635193.1:c.2088+10_2088+15dup | ||
| NM_001190709.1:c.2637+10_2637+15dup | NP_001177638.1:n.2637+10_2637+15dup | |
| NM_001854.3:c.2754+10_2754+15dup | NP_001845.3:n.2754+10_2754+15dup | |
| NM_080629.2:c.2790+10_2790+15dup | NP_542196.2:n.2790+10_2790+15dup | |
| NM_080630.3:c.2406+10_2406+15dup | NP_542197.3:n.2406+10_2406+15dup | |
| XM_011540719.1:c.2754+10_2754+15dup | XP_011539021.1:n.2754+10_2754+15dup | |
| XM_011540720.1:c.987+10_987+15dup | XP_011539022.1:n.987+10_987+15dup | |
| XM_011540721.1:c.342+10_342+15dup | XP_011539023.1:n.342+10_342+15dup | |
| XR_946545.1:n.3168+10_3168+15dup | ||
| NR_134980.1:n.3088+10_3088+15dup | ||
| XM_017000334.1:c.2907+10_2907+15dup | XP_016855823.1:n.2907+10_2907+15dup | |
| XM_017000335.1:c.2901+10_2901+15dup | XP_016855824.1:n.2901+10_2901+15dup | |
| XM_017000336.1:c.2907+10_2907+15dup | XP_016855825.1:n.2907+10_2907+15dup | |
| XM_017000337.1:c.1305+10_1305+15dup | XP_016855826.1:n.1305+10_1305+15dup | |
| NM_001854.4:c.2754+10_2754+15dup MANE Select | NP_001845.3:n.2754+10_2754+15dup | |
| NM_080630.4:c.2406+10_2406+15dup | NP_542197.3:n.2406+10_2406+15dup | |
| NR_134980.2:n.3114+10_3114+15dup | ||
| NM_001190709.2:c.2637+10_2637+15dup | NP_001177638.1:n.2637+10_2637+15dup | |
| NM_080629.3:c.2790+10_2790+15dup | NP_542196.2:n.2790+10_2790+15dup |