Linked Data
dbSNP Id:
rs201193580
gnomAD v2:
13-32892576-A-ATTTT
gnomAD v3:
13-32318439-A-ATTTT
gnomAD v4:
13-32318439-A-ATTTT
MyVariant Identifiers:
chr13:g.32892577_32892578insTTTT (hg19)
chr13:g.32318440_32318441insTTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32318449_32318452dup , CM000675.2:g.32318449_32318452dup | GRCh38 |
| NC_000013.10:g.32892586_32892589dup , CM000675.1:g.32892586_32892589dup | GRCh37 |
| NC_000013.9:g.31790586_31790589dup | NCBI36 |
| NG_012772.3:g.7970_7973dup , LRG_293:g.7970_7973dup | |
| NG_017006.2:g.1921_1924dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.68-628_68-625dup | ENSP00000434898.2:n.68-628_68-625dup | |
| ENST00000528762.2:c.68-628_68-625dup | ENSP00000433168.2:n.68-628_68-625dup | |
| ENST00000530893.7:c.-302-628_-302-625dup | ENSP00000499438.2:n.-302-628_-302-625dup | |
| ENST00000665585.2:c.68-628_68-625dup | ENSP00000499570.2:n.68-628_68-625dup | |
| ENST00000666593.2:c.68-628_68-625dup | ENSP00000499256.2:n.68-628_68-625dup | |
| ENST00000700202.2:c.68-628_68-625dup | ENSP00000514856.2:n.68-628_68-625dup | |
| ENST00000700200.1:n.191+1922_191+1925dup | ||
| ENST00000700201.1:c.68-628_68-625dup | ENSP00000514855.1:n.68-628_68-625dup | |
| ENST00000380152.8:c.68-628_68-625dup MANE Select | ENSP00000369497.3:n.68-628_68-625dup | |
| ENST00000544455.6:c.68-628_68-625dup | ENSP00000439902.1:n.68-628_68-625dup | |
| ENST00000614259.2:c.68-628_68-625dup | ENSP00000506251.1:n.68-628_68-625dup | |
| ENST00000680887.1:c.68-628_68-625dup | ENSP00000505508.1:n.68-628_68-625dup | |
| ENST00000380152.7:c.68-628_68-625dup | ENSP00000369497.3:n.68-628_68-625dup | |
| ENST00000530893.6:n.266-628_266-625dup | ||
| ENST00000544455.5:c.68-628_68-625dup | ENSP00000439902.1:n.68-628_68-625dup | |
| ENST00000614259.1:n.68-628_68-625dup | ||
| NM_000059.3:c.68-628_68-625dup , LRG_293t1:c.68-628_68-625dup | NP_000050.2:n.68-628_68-625dup | |
| XM_011535203.1:c.68-628_68-625dup | XP_011533505.1:n.68-628_68-625dup | |
| XM_011535204.1:c.68-628_68-625dup | XP_011533506.1:n.68-628_68-625dup | |
| XM_011535205.1:c.68-628_68-625dup | XP_011533507.1:n.68-628_68-625dup | |
| NM_000059.4:c.68-628_68-625dup MANE Select | NP_000050.3:n.68-628_68-625dup |