Linked Data
ClinVar Variation Id:
1328238
dbSNP Id:
rs766191969
ExAC:
12:121432116 G / GC
gnomAD v2:
12-121432116-G-GC
gnomAD v3:
12-120994313-G-GC
gnomAD v4:
12-120994313-G-GC
MyVariant Identifiers:
chr12:g.121432116_121432117insC (hg19)
chr12:g.120994313_120994314insC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120994313_120994314insC , CM000674.2:g.120994313_120994314insC | GRCh38 |
| NC_000012.11:g.121432116_121432117insC , CM000674.1:g.121432116_121432117insC | GRCh37 |
| NC_000012.10:g.119916499_119916500insC | NCBI36 |
| NG_011731.2:g.20568_20569insC , LRG_522:g.20568_20569insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.750+113_750+114insC | ENSP00000453965.2:n.750+113_750+114insC | |
| ENST00000257555.11:c.863_864insC MANE Select | ENSP00000257555.5:p.Pro289AlafsTer28 | |
| ENST00000257555.10:c.863_864insC | ENSP00000257555.4:p.Pro289AlafsTer28 | |
| ENST00000400024.6:c.863_864insC | ENSP00000476181.1:p.Pro289AlafsTer28 | |
| ENST00000402929.5:n.998_999insC | ||
| ENST00000535955.5:n.43-3178_43-3177insC | ||
| ENST00000538626.2:n.191-3178_191-3177insC | ||
| ENST00000538646.5:c.676_677insC | ENSP00000443964.1:p.Gly226AlafsTer? | |
| ENST00000540108.1:c.*303_*304insC | ENSP00000445445.1:n.*303_*304insC | |
| ENST00000541395.5:c.863_864insC | ENSP00000443112.1:p.Pro289AlafsTer28 | |
| ENST00000541924.5:c.713+607_713+608insC | ENSP00000440361.1:n.713+607_713+608insC | |
| ENST00000543427.5:c.633+687_633+688insC | ENSP00000439721.2:n.633+687_633+688insC | |
| ENST00000544413.2:c.863_864insC | ENSP00000438804.1:p.Pro289AlafsTer28 | |
| ENST00000544574.5:c.73-2304_73-2303insC | ENSP00000438565.1:n.73-2304_73-2303insC | |
| ENST00000560968.5:c.893+113_893+114insC | ||
| ENST00000615446.4:c.-257-1949_-257-1948insC | ENSP00000483994.1:n.-257-1949_-257-1948insC | |
| ENST00000617366.4:c.586+734_586+735insC | ENSP00000481967.1:n.586+734_586+735insC | |
| NM_000545.5:c.863_864insC , LRG_522t1:c.863_864insC | NP_000536.5:p.Pro289AlafsTer28 | |
| NM_000545.6:c.863_864insC | NP_000536.5:p.Pro289AlafsTer28 | |
| NM_001306179.1:c.863_864insC | NP_001293108.1:p.Pro289AlafsTer28 | |
| XM_005253931.2:c.863_864insC | XP_005253988.1:p.Pro289AlafsTer28 | |
| XM_024449168.1:c.863_864insC | XP_024304936.1:p.Pro289AlafsTer28 | |
| NM_000545.8:c.863_864insC MANE Select | NP_000536.6:p.Pro289AlafsTer28 | |
| NM_001306179.2:c.863_864insC | NP_001293108.2:p.Pro289AlafsTer28 |