Linked Data
ClinVar Variation Id:
294917
dbSNP Id:
rs143439055
ExAC:
1:203186864 TACTC / T
gnomAD v2:
1-203186864-TACTC-T
gnomAD v3:
1-203217736-TACTC-T
gnomAD v4:
1-203217736-TACTC-T
MyVariant Identifiers:
chr1:g.203186865_203186868del (hg19)
chr1:g.203217738_203217741del (hg38)
chr1:g.203217737_203217740del (hg38)
PubMed:
PMID:23430552
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.203217738_203217741del , CM000663.2:g.203217738_203217741del | GRCh38 |
| NC_000001.10:g.203186866_203186869del , CM000663.1:g.203186866_203186869del | GRCh37 |
| NC_000001.9:g.201453489_201453492del | NCBI36 |
| NG_012867.1:g.16993_16996del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367229.6:c.1155_1156+2del | ||
| ENST00000255427.7:c.1098_1099+2del | ||
| ENST00000367229.5:c.1155_1156+2del | ||
| ENST00000479483.1:n.282_283+2del | ||
| ENST00000484834.5:n.5387_5388+2del | ||
| ENST00000491855.5:c.1155_1156+2del | ||
| ENST00000503786.1:c.*226_*227+2del | ||
| NM_001256125.1:c.1098_1099+2del | ||
| NM_001270509.1:c.1020_1021+2del | ||
| NM_003465.2:c.1155_1156+2del | ||
| NR_045784.1:n.1408_1409+2del | ||
| NR_045785.1:n.1251_1252+2del | ||
| XM_011509109.1:c.1200_1201+2del | ||
| XM_011509110.1:c.1200_1201+2del | ||
| NM_003465.3:c.1155_1156+2del | ||
| NM_001256125.2:c.1098_1099+2del | ||
| NR_045784.2:n.1349_1350+2del | ||
| NR_045785.2:n.1192_1193+2del |