Linked Data
dbSNP Id:
rs10569304
ExAC:
14:105996049 T / TGCC
gnomAD v2:
14-105996049-T-TGCC
gnomAD v3:
14-105529712-T-TGCC
gnomAD v4:
14-105529712-T-TGCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.105529730_105529732dup , CM000676.2:g.105529730_105529732dup | GRCh38 |
| NC_000014.8:g.105996067_105996069dup , CM000676.1:g.105996067_105996069dup | GRCh37 |
| NC_000014.7:g.105067112_105067114dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392519.7:c.896_898dup MANE Select | ENSP00000376304.2:p.Pro299_Leu300insPro | |
| ENST00000392519.6:c.896_898dup | ENSP00000376304.2:p.Pro299_Leu300insPro | |
| ENST00000431372.1:c.896_898dup | ENSP00000407456.1:p.Pro299_Leu300insPro | |
| NM_025268.2:c.896_898dup | NP_079544.1:p.Pro299_Leu300insPro | |
| XM_005268101.2:c.896_898dup | XP_005268158.1:p.Pro299_Leu300insPro | |
| XM_006720261.2:c.896_898dup | XP_006720324.1:p.Pro299_Leu300insPro | |
| XM_011537185.1:c.896_898dup | XP_011535487.1:p.Pro299_Leu300insPro | |
| XM_011537186.1:c.896_898dup | XP_011535488.1:p.Pro299_Leu300insPro | |
| NM_001331238.1:c.896_898dup | NP_001318167.1:p.Pro299_Leu300insPro | |
| NM_025268.3:c.896_898dup | NP_079544.1:p.Pro299_Leu300insPro | |
| XM_006720261.3:c.896_898dup | XP_006720324.1:p.Pro299_Leu300insPro | |
| NM_025268.4:c.896_898dup MANE Select | NP_079544.1:p.Pro299_Leu300insPro | |
| NM_001331238.2:c.896_898dup | NP_001318167.1:p.Pro299_Leu300insPro |