Linked Data
dbSNP Id:
rs1883371464
gnomAD v3:
13-23330119-TTTTTCGTTAAATATCTTCACACTTTTTG-T
gnomAD v4:
13-23330119-TTTTTCGTTAAATATCTTCACACTTTTTG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23330122_23330149del , CM000675.2:g.23330122_23330149del | GRCh38 |
| NC_000013.10:g.23904261_23904288del , CM000675.1:g.23904261_23904288del | GRCh37 |
| NC_000013.9:g.22802261_22802288del | NCBI36 |
| NG_012342.1:g.108556_108583del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2186-18032_2186-18005del | ENSP00000508399.1:n.2186-18032_2186-18005del | |
| ENST00000682944.1:c.13756_*16del | ENSP00000507173.1:n.[c.13756_*16del;Gln4586LysfsTer3] | |
| ENST00000683210.1:c.2185+23638_2185+23665del | ENSP00000506739.1:n.2185+23638_2185+23665del | |
| ENST00000683270.1:c.6446-663_6446-636del | ENSP00000507624.1:n.6446-663_6446-636del | |
| ENST00000683367.1:c.2177-663_2177-636del | ENSP00000507780.1:n.2177-663_2177-636del | |
| ENST00000683489.1:c.2292-195_2292-168del | ENSP00000508403.1:n.2292-195_2292-168del | |
| ENST00000683680.1:c.2319-195_2319-168del | ENSP00000507223.1:n.2319-195_2319-168del | |
| ENST00000684163.1:c.2204-663_2204-636del | ENSP00000508262.1:n.2204-663_2204-636del | |
| ENST00000684196.1:n.4543-663_4543-636del | ||
| ENST00000684325.1:c.2186-8473_2186-8446del | ENSP00000508121.1:n.2186-8473_2186-8446del | |
| ENST00000684385.1:c.2221-663_2221-636del | ENSP00000507855.1:n.2221-663_2221-636del | |
| ENST00000684497.1:c.2186-7503_2186-7476del | ENSP00000507057.1:n.2186-7503_2186-7476del | |
| ENST00000382292.9:c.13729_*16del MANE Select | ENSP00000371729.3:n.[c.13729_*16del;Gln4577LysfsTer3] | |
| ENST00000423156.2:c.2186-663_2186-636del | ENSP00000390925.2:n.2186-663_2186-636del | |
| ENST00000455470.6:c.2432-663_2432-636del | ENSP00000406565.2:n.2432-663_2432-636del | |
| ENST00000382292.7:c.13729_*16del | ENSP00000371729.3:n.[c.13729_*16del;Gln4577LysfsTer3] | |
| ENST00000382298.7:c.13729_*16del | ENSP00000371735.3:n.[c.13729_*16del;Gln4577LysfsTer3] | |
| ENST00000402364.1:c.11479_*16del | ENSP00000385844.1:n.[c.11479_*16del;Gln3827LysfsTer3] | |
| ENST00000423156.1:c.1058-663_1058-636del | ENSP00000390925.1:n.1058-663_1058-636del | |
| ENST00000455470.5:c.2130-663_2130-636del | ||
| NM_001278055.1:c.13288_*16del | NP_001264984.1:n.[c.13288_*16del;Gln4430LysfsTer3] | |
| NM_014363.5:c.13729_*16del | NP_055178.3:n.[c.13729_*16del;Gln4577LysfsTer3] | |
| XM_005266338.1:c.13756_*16del | XP_005266395.1:n.[c.13756_*16del;Gln4586LysfsTer3] | |
| XM_011535038.1:c.13780_*16del | XP_011533340.1:n.[c.13780_*16del;Gln4594LysfsTer3] | |
| XM_011535039.1:c.13747_*16del | XP_011533341.1:n.[c.13747_*16del;Gln4583LysfsTer3] | |
| XM_005266338.2:c.13756_*16del | XP_005266395.1:n.[c.13756_*16del;Gln4586LysfsTer3] | |
| XM_011535039.2:c.13747_*16del | XP_011533341.1:n.[c.13747_*16del;Gln4583LysfsTer3] | |
| XM_017020539.1:c.13720_*16del | XP_016876028.1:n.[c.13720_*16del;Gln4574LysfsTer3] | |
| XM_024449337.1:c.13756_*16del | XP_024305105.1:n.[c.13756_*16del;Gln4586LysfsTer3] | |
| NM_014363.6:c.13729_*16del MANE Select | NP_055178.3:n.[c.13729_*16del;Gln4577LysfsTer3] | |
| NM_001278055.2:c.13288_*16del | NP_001264984.1:n.[c.13288_*16del;Gln4430LysfsTer3] |