Linked Data
dbSNP Id:
rs1869256094
gnomAD v3:
13-23341777-GTTCTTT-G
gnomAD v4:
13-23341777-GTTCTTT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23341780_23341785del , CM000675.2:g.23341780_23341785del | GRCh38 |
| NC_000013.10:g.23915919_23915924del , CM000675.1:g.23915919_23915924del | GRCh37 |
| NC_000013.9:g.22813919_22813924del | NCBI36 |
| NG_012342.1:g.96920_96925del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+12002_2185+12007del | ENSP00000508399.1:n.2185+12002_2185+12007del | |
| ENST00000682944.1:c.2213-93_2213-88del | ENSP00000507173.1:n.2213-93_2213-88del | |
| ENST00000683210.1:c.2185+12002_2185+12007del | ENSP00000506739.1:n.2185+12002_2185+12007del | |
| ENST00000683270.1:c.2177-93_2177-88del | ENSP00000507624.1:n.2177-93_2177-88del | |
| ENST00000683367.1:c.2176+12002_2176+12007del | ENSP00000507780.1:n.2176+12002_2176+12007del | |
| ENST00000683489.1:c.2186-93_2186-88del | ENSP00000508403.1:n.2186-93_2186-88del | |
| ENST00000683680.1:c.2213-93_2213-88del | ENSP00000507223.1:n.2213-93_2213-88del | |
| ENST00000684163.1:c.2203+5028_2203+5033del | ENSP00000508262.1:n.2203+5028_2203+5033del | |
| ENST00000684196.1:n.4542+12002_4542+12007del | ||
| ENST00000684325.1:c.2185+12002_2185+12007del | ENSP00000508121.1:n.2185+12002_2185+12007del | |
| ENST00000684385.1:c.2220+5028_2220+5033del | ENSP00000507855.1:n.2220+5028_2220+5033del | |
| ENST00000684497.1:c.2185+12002_2185+12007del | ENSP00000507057.1:n.2185+12002_2185+12007del | |
| ENST00000382292.9:c.2186-93_2186-88del MANE Select | ENSP00000371729.3:n.2186-93_2186-88del | |
| ENST00000423156.2:c.2185+12002_2185+12007del | ENSP00000390925.2:n.2185+12002_2185+12007del | |
| ENST00000455470.6:c.2186-93_2186-88del | ENSP00000406565.2:n.2186-93_2186-88del | |
| ENST00000382292.7:c.2186-93_2186-88del | ENSP00000371729.3:n.2186-93_2186-88del | |
| ENST00000382298.7:c.2186-93_2186-88del | ENSP00000371735.3:n.2186-93_2186-88del | |
| ENST00000402364.1:c.-65-93_-65-88del | ENSP00000385844.1:n.-65-93_-65-88del | |
| ENST00000423156.1:c.1057+12002_1057+12007del | ENSP00000390925.1:n.1057+12002_1057+12007del | |
| ENST00000455470.5:c.1884-93_1884-88del | ||
| NM_001278055.1:c.1745-93_1745-88del | NP_001264984.1:n.1745-93_1745-88del | |
| NM_014363.5:c.2186-93_2186-88del | NP_055178.3:n.2186-93_2186-88del | |
| XM_005266338.1:c.2213-93_2213-88del | XP_005266395.1:n.2213-93_2213-88del | |
| XM_011535038.1:c.2237-93_2237-88del | XP_011533340.1:n.2237-93_2237-88del | |
| XM_011535039.1:c.2204-93_2204-88del | XP_011533341.1:n.2204-93_2204-88del | |
| XM_005266338.2:c.2213-93_2213-88del | XP_005266395.1:n.2213-93_2213-88del | |
| XM_011535039.2:c.2204-93_2204-88del | XP_011533341.1:n.2204-93_2204-88del | |
| XM_017020539.1:c.2177-93_2177-88del | XP_016876028.1:n.2177-93_2177-88del | |
| XM_024449337.1:c.2213-93_2213-88del | XP_024305105.1:n.2213-93_2213-88del | |
| NM_014363.6:c.2186-93_2186-88del MANE Select | NP_055178.3:n.2186-93_2186-88del | |
| NM_001278055.2:c.1745-93_1745-88del | NP_001264984.1:n.1745-93_1745-88del |