Linked Data
ClinVar Variation Id:
871146
dbSNP Id:
rs776735249
ExAC:
12:110032885 CCT / C
gnomAD v2:
12-110032885-CCT-C
gnomAD v4:
12-109595080-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109595085_109595086del , CM000674.2:g.109595085_109595086del | GRCh38 |
| NC_000012.11:g.110032890_110032891del , CM000674.1:g.110032890_110032891del | GRCh37 |
| NC_000012.10:g.108517273_108517274del | NCBI36 |
| NG_007702.1:g.26391_26392del , LRG_156:g.26391_26392del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539696.6:c.100_101del | ENSP00000439134.1:p.Leu34GlyfsTer? | |
| ENST00000546277.6:c.943_944del | ENSP00000438153.2:p.Leu315GlyfsTer? | |
| ENST00000636529.2:n.582_583del | ||
| ENST00000697195.1:c.*707_*708del | ENSP00000513181.1:n.*707_*708del | |
| ENST00000697196.1:c.*116_*117del | ENSP00000513182.1:n.*116_*117del | |
| ENST00000697197.1:n.2972_2973del | ||
| ENST00000697198.1:n.1327_1328del | ||
| ENST00000228510.8:c.943_944del MANE Select | ENSP00000228510.3:p.Leu315GlyfsTer? | |
| ENST00000636529.1:c.568_569del | ||
| ENST00000636996.1:c.791_792del | ||
| ENST00000228510.7:c.943_944del | ENSP00000228510.3:p.Leu315GlyfsTer? | |
| ENST00000392727.7:c.787_788del | ENSP00000376487.3:p.Leu263GlyfsTer? | |
| ENST00000447878.6:c.*390_*391del | ENSP00000415555.2:n.*390_*391del | |
| ENST00000537237.5:c.*616_*617del | ENSP00000445382.1:n.*616_*617del | |
| ENST00000539575.4:c.943_944del | ENSP00000443551.2:p.Leu315GlyfsTer? | |
| ENST00000539696.5:c.100_101del | ENSP00000439134.1:p.Leu34GlyfsTer? | |
| ENST00000540353.1:n.3176_3177del | ||
| ENST00000625889.2:c.787_788del | ENSP00000486846.1:p.Leu263GlyfsTer? | |
| ENST00000629016.2:c.*390_*391del | ENSP00000486804.1:n.*390_*391del | |
| NM_000431.3:c.943_944del | NP_000422.1:p.Leu315GlyfsTer? | |
| NM_001114185.2:c.943_944del | NP_001107657.1:p.Leu315GlyfsTer? | |
| NM_001301182.1:c.787_788del | NP_001288111.1:p.Leu263GlyfsTer? | |
| XM_011538372.1:c.943_944del | XP_011536674.1:p.Leu315GlyfsTer? | |
| XM_017019313.2:c.787_788del | XP_016874802.1:p.Leu263GlyfsTer? | |
| XM_017019314.1:c.943_944del | XP_016874803.1:p.Leu315GlyfsTer? | |
| NM_000431.4:c.943_944del MANE Select | NP_000422.1:p.Leu315GlyfsTer? | |
| NM_001114185.3:c.943_944del | NP_001107657.1:p.Leu315GlyfsTer? | |
| NM_001301182.2:c.787_788del | NP_001288111.1:p.Leu263GlyfsTer? |