Linked Data
dbSNP Id:
rs780983471
ExAC:
13:23910688 ATTC / A
gnomAD v2:
13-23910688-ATTC-A
gnomAD v4:
13-23336549-ATTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23336552_23336554del , CM000675.2:g.23336552_23336554del | GRCh38 |
| NC_000013.10:g.23910691_23910693del , CM000675.1:g.23910691_23910693del | GRCh37 |
| NC_000013.9:g.22808691_22808693del | NCBI36 |
| NG_012342.1:g.102151_102153del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+17233_2185+17235del | ENSP00000508399.1:n.2185+17233_2185+17235del | |
| ENST00000682944.1:c.7351_7353del | ENSP00000507173.1:p.Glu2451del | |
| ENST00000683210.1:c.2185+17233_2185+17235del | ENSP00000506739.1:n.2185+17233_2185+17235del | |
| ENST00000683270.1:c.6445+870_6445+872del | ENSP00000507624.1:n.6445+870_6445+872del | |
| ENST00000683367.1:c.2177-7068_2177-7066del | ENSP00000507780.1:n.2177-7068_2177-7066del | |
| ENST00000683489.1:c.2291+5033_2291+5035del | ENSP00000508403.1:n.2291+5033_2291+5035del | |
| ENST00000683680.1:c.2318+5033_2318+5035del | ENSP00000507223.1:n.2318+5033_2318+5035del | |
| ENST00000684163.1:c.2204-7068_2204-7066del | ENSP00000508262.1:n.2204-7068_2204-7066del | |
| ENST00000684196.1:n.4543-7068_4543-7066del | ||
| ENST00000684325.1:c.2186-14878_2186-14876del | ENSP00000508121.1:n.2186-14878_2186-14876del | |
| ENST00000684385.1:c.2221-7068_2221-7066del | ENSP00000507855.1:n.2221-7068_2221-7066del | |
| ENST00000684497.1:c.2186-13908_2186-13906del | ENSP00000507057.1:n.2186-13908_2186-13906del | |
| ENST00000382292.9:c.7324_7326del MANE Select | ENSP00000371729.3:p.Glu2442del | |
| ENST00000423156.2:c.2186-7068_2186-7066del | ENSP00000390925.2:n.2186-7068_2186-7066del | |
| ENST00000455470.6:c.2431+4893_2431+4895del | ENSP00000406565.2:n.2431+4893_2431+4895del | |
| ENST00000382292.7:c.7324_7326del | ENSP00000371729.3:p.Glu2442del | |
| ENST00000382298.7:c.7324_7326del | ENSP00000371735.3:p.Glu2442del | |
| ENST00000402364.1:c.5074_5076del | ENSP00000385844.1:p.Glu1692del | |
| ENST00000423156.1:c.1058-7068_1058-7066del | ENSP00000390925.1:n.1058-7068_1058-7066del | |
| ENST00000455470.5:c.2129+4893_2129+4895del | ||
| NM_001278055.1:c.6883_6885del | NP_001264984.1:p.Glu2295del | |
| NM_014363.5:c.7324_7326del | NP_055178.3:p.Glu2442del | |
| XM_005266338.1:c.7351_7353del | XP_005266395.1:p.Glu2451del | |
| XM_011535038.1:c.7375_7377del | XP_011533340.1:p.Glu2459del | |
| XM_011535039.1:c.7342_7344del | XP_011533341.1:p.Glu2448del | |
| XM_005266338.2:c.7351_7353del | XP_005266395.1:p.Glu2451del | |
| XM_011535039.2:c.7342_7344del | XP_011533341.1:p.Glu2448del | |
| XM_017020539.1:c.7315_7317del | XP_016876028.1:p.Glu2439del | |
| XM_024449337.1:c.7351_7353del | XP_024305105.1:p.Glu2451del | |
| NM_014363.6:c.7324_7326del MANE Select | NP_055178.3:p.Glu2442del | |
| NM_001278055.2:c.6883_6885del | NP_001264984.1:p.Glu2295del |