Linked Data
dbSNP Id:
rs200156944
gnomAD v3:
13-32376521-CAAAA-C
gnomAD v4:
13-32376521-CAAAA-C
COSMIC:
COSN18737429
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32376532_32376535del , CM000675.2:g.32376532_32376535del | GRCh38 |
| NC_000013.10:g.32950669_32950672del , CM000675.1:g.32950669_32950672del | GRCh37 |
| NC_000013.9:g.31848669_31848672del | NCBI36 |
| NG_012772.3:g.66053_66056del , LRG_293:g.66053_66056del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8633-138_8633-135del | ENSP00000434898.2:n.8633-138_8633-135del | |
| ENST00000528762.2:c.8697-138_8697-135del | ENSP00000433168.2:n.8697-138_8697-135del | |
| ENST00000530893.7:c.8264-138_8264-135del | ENSP00000499438.2:n.8264-138_8264-135del | |
| ENST00000665585.2:c.*195-138_*195-135del | ENSP00000499570.2:n.*195-138_*195-135del | |
| ENST00000666593.2:c.8633-138_8633-135del | ENSP00000499256.2:n.8633-138_8633-135del | |
| ENST00000700202.2:c.8633-138_8633-135del | ENSP00000514856.2:n.8633-138_8633-135del | |
| ENST00000700202.1:c.1100-138_1100-135del | ENSP00000514856.1:n.1100-138_1100-135del | |
| ENST00000700203.1:n.622_625del | ||
| ENST00000380152.8:c.8633-138_8633-135del MANE Select | ENSP00000369497.3:n.8633-138_8633-135del | |
| ENST00000544455.6:c.8633-138_8633-135del | ENSP00000439902.1:n.8633-138_8633-135del | |
| ENST00000614259.2:c.8641-138_8641-135del | ENSP00000506251.1:n.8641-138_8641-135del | |
| ENST00000665585.1:c.1511-138_1511-135del | ||
| ENST00000680887.1:c.8633-138_8633-135del | ENSP00000505508.1:n.8633-138_8633-135del | |
| ENST00000380152.7:c.8633-138_8633-135del | ENSP00000369497.3:n.8633-138_8633-135del | |
| ENST00000528762.1:c.195-138_195-135del | ENSP00000433168.1:n.195-138_195-135del | |
| ENST00000544455.5:c.8633-138_8633-135del | ENSP00000439902.1:n.8633-138_8633-135del | |
| NM_000059.3:c.8633-138_8633-135del , LRG_293t1:c.8633-138_8633-135del | NP_000050.2:n.8633-138_8633-135del | |
| XM_011535203.1:c.8633-138_8633-135del | XP_011533505.1:n.8633-138_8633-135del | |
| XM_011535204.1:c.8537-138_8537-135del | XP_011533506.1:n.8537-138_8537-135del | |
| XM_011535205.1:c.8633-138_8633-135del | XP_011533507.1:n.8633-138_8633-135del | |
| NM_000059.4:c.8633-138_8633-135del MANE Select | NP_000050.3:n.8633-138_8633-135del |