Linked Data
ClinVar Variation Id:
53703
ClinVar RCV Id:
RCV000577052
dbSNP Id:
rs1554392248
MyVariant Identifiers:
chr7:g.117251776_117252130delinsTGTTAA (hg19)
chr7:g.117611722_117612076delinsTGTTAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117611722_117612076delinsTGTTAA , CM000669.2:g.117611722_117612076delinsTGTTAA | GRCh38 |
| NC_000007.13:g.117251776_117252130delinsTGTTAA , CM000669.1:g.117251776_117252130delinsTGTTAA | GRCh37 |
| NC_000007.12:g.117039012_117039366delinsTGTTAA | NCBI36 |
| NG_016465.4:g.150939_151293delinsTGTTAA , LRG_663:g.150939_151293delinsTGTTAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3281_3367+268delinsTGTTAA | ||
| ENST00000647978.2:c.*2995_*3081+268delinsTGTTAA | ||
| ENST00000649781.2:c.3098_3184+268delinsTGTTAA | ||
| ENST00000685018.2:c.3281_3367+268delinsTGTTAA | ||
| ENST00000687278.2:c.3281_3367+268delinsTGTTAA | ||
| ENST00000699585.1:c.3281_3367+268delinsTGTTAA | ||
| ENST00000699598.1:c.3281_3367+268delinsTGTTAA | ||
| ENST00000699599.1:c.3281_3367+268delinsTGTTAA | ||
| ENST00000699600.1:c.3281_3367+268delinsTGTTAA | ||
| ENST00000699601.1:c.*1581_*1667+268delinsTGTTAA | ||
| ENST00000699602.1:c.3281_3367+268delinsTGTTAA | ||
| ENST00000699604.1:c.*3105_*3191+268delinsTGTTAA | ||
| ENST00000699605.1:c.2855_2941+268delinsTGTTAA | ||
| ENST00000685018.1:c.29_115+268delinsTGTTAA | ||
| ENST00000687278.1:c.872_958+268delinsTGTTAA | ||
| ENST00000003084.11:c.3281_3367+268delinsTGTTAA | ||
| ENST00000647720.1:c.931_1017+268delinsTGTTAA | ||
| ENST00000648260.1:c.2063_2149+268delinsTGTTAA | ||
| ENST00000649406.1:c.3098_3184+268delinsTGTTAA | ||
| ENST00000649781.1:c.3098_3184+268delinsTGTTAA | ||
| ENST00000003084.10:c.3281_3367+268delinsTGTTAA | ||
| ENST00000426809.5:c.3191_3277+268delinsTGTTAA | ||
| ENST00000468795.1:c.106_192+268delinsTGTTAA | ||
| NM_000492.3:c.3281_3367+268delinsTGTTAA , LRG_663t1:c.3281_3367+268delinsTGTTAA | ||
| XM_011515751.1:c.3371_3457+268delinsTGTTAA | ||
| XM_011515752.1:c.3371_3457+268delinsTGTTAA | ||
| XM_011515753.1:c.3038_3124+268delinsTGTTAA | ||
| XM_011515754.1:c.3038_3124+268delinsTGTTAA | ||
| NM_000492.4:c.3281_3367+268delinsTGTTAA |