Linked Data
ClinVar Variation Id:
1985547
ClinVar RCV Id:
RCV002780833
gnomAD v4:
13-23334065-CAAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23334066_23334068del , CM000675.2:g.23334066_23334068del | GRCh38 |
| NC_000013.10:g.23908205_23908207del , CM000675.1:g.23908205_23908207del | GRCh37 |
| NC_000013.9:g.22806205_22806207del | NCBI36 |
| NG_012342.1:g.104635_104637del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+19717_2185+19719del | ENSP00000508399.1:n.2185+19717_2185+19719del | |
| ENST00000682944.1:c.9835_9837del | ENSP00000507173.1:p.Ile3279del | |
| ENST00000683210.1:c.2185+19717_2185+19719del | ENSP00000506739.1:n.2185+19717_2185+19719del | |
| ENST00000683270.1:c.6445+3354_6445+3356del | ENSP00000507624.1:n.6445+3354_6445+3356del | |
| ENST00000683367.1:c.2177-4584_2177-4582del | ENSP00000507780.1:n.2177-4584_2177-4582del | |
| ENST00000683489.1:c.2292-4116_2292-4114del | ENSP00000508403.1:n.2292-4116_2292-4114del | |
| ENST00000683680.1:c.2319-4116_2319-4114del | ENSP00000507223.1:n.2319-4116_2319-4114del | |
| ENST00000684163.1:c.2204-4584_2204-4582del | ENSP00000508262.1:n.2204-4584_2204-4582del | |
| ENST00000684196.1:n.4543-4584_4543-4582del | ||
| ENST00000684325.1:c.2186-12394_2186-12392del | ENSP00000508121.1:n.2186-12394_2186-12392del | |
| ENST00000684385.1:c.2221-4584_2221-4582del | ENSP00000507855.1:n.2221-4584_2221-4582del | |
| ENST00000684497.1:c.2186-11424_2186-11422del | ENSP00000507057.1:n.2186-11424_2186-11422del | |
| ENST00000382292.9:c.9808_9810del MANE Select | ENSP00000371729.3:p.Ile3270del | |
| ENST00000423156.2:c.2186-4584_2186-4582del | ENSP00000390925.2:n.2186-4584_2186-4582del | |
| ENST00000455470.6:c.2432-4584_2432-4582del | ENSP00000406565.2:n.2432-4584_2432-4582del | |
| ENST00000382292.7:c.9808_9810del | ENSP00000371729.3:p.Ile3270del | |
| ENST00000382298.7:c.9808_9810del | ENSP00000371735.3:p.Ile3270del | |
| ENST00000402364.1:c.7558_7560del | ENSP00000385844.1:p.Ile2520del | |
| ENST00000423156.1:c.1058-4584_1058-4582del | ENSP00000390925.1:n.1058-4584_1058-4582del | |
| ENST00000455470.5:c.2130-4584_2130-4582del | ||
| NM_001278055.1:c.9367_9369del | NP_001264984.1:p.Ile3123del | |
| NM_014363.5:c.9808_9810del | NP_055178.3:p.Ile3270del | |
| XM_005266338.1:c.9835_9837del | XP_005266395.1:p.Ile3279del | |
| XM_011535038.1:c.9859_9861del | XP_011533340.1:p.Ile3287del | |
| XM_011535039.1:c.9826_9828del | XP_011533341.1:p.Ile3276del | |
| XM_005266338.2:c.9835_9837del | XP_005266395.1:p.Ile3279del | |
| XM_011535039.2:c.9826_9828del | XP_011533341.1:p.Ile3276del | |
| XM_017020539.1:c.9799_9801del | XP_016876028.1:p.Ile3267del | |
| XM_024449337.1:c.9835_9837del | XP_024305105.1:p.Ile3279del | |
| NM_014363.6:c.9808_9810del MANE Select | NP_055178.3:p.Ile3270del | |
| NM_001278055.2:c.9367_9369del | NP_001264984.1:p.Ile3123del |