Linked Data
dbSNP Id:
rs762045412
ExAC:
12:121435324 G / GGCA
gnomAD v2:
12-121435324-G-GGCA
gnomAD v4:
12-120997521-G-GGCA
MyVariant Identifiers:
chr12:g.121435324_121435325insGCA (hg19)
chr12:g.120997521_120997522insGCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120997527_120997529dup , CM000674.2:g.120997527_120997529dup | GRCh38 |
| NC_000012.11:g.121435330_121435332dup , CM000674.1:g.121435330_121435332dup | GRCh37 |
| NC_000012.10:g.119919713_119919715dup | NCBI36 |
| NG_011731.2:g.23782_23784dup , LRG_522:g.23782_23784dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000560968.6:c.*110_*112dup | ENSP00000453965.2:n.*110_*112dup | |
| ENST00000257555.11:c.1363_1365dup MANE Select | ENSP00000257555.5:p.Ser455_Leu456insSer | |
| ENST00000257555.10:c.1363_1365dup | ENSP00000257555.4:p.Ser455_Leu456insSer | |
| ENST00000400024.6:c.1363_1365dup | ENSP00000476181.1:p.Ser455_Leu456insSer | |
| ENST00000402929.5:n.2229_2231dup | ||
| ENST00000535955.5:n.79_81dup | ||
| ENST00000538626.2:n.227_229dup | ||
| ENST00000538646.5:c.*339_*341dup | ENSP00000443964.1:n.*339_*341dup | |
| ENST00000540108.1:c.*803_*805dup | ENSP00000445445.1:n.*803_*805dup | |
| ENST00000541395.5:c.1363_1365dup | ENSP00000443112.1:p.Ser455_Leu456insSer | |
| ENST00000541924.5:c.*377_*379dup | ENSP00000440361.1:n.*377_*379dup | |
| ENST00000543255.1:n.407_409dup | ||
| ENST00000543427.5:c.826_828dup | ENSP00000439721.2:p.Ser276_Leu277insSer | |
| ENST00000544413.2:c.1363_1365dup | ENSP00000438804.1:p.Ser455_Leu456insSer | |
| ENST00000544574.5:c.*126_*128dup | ENSP00000438565.1:n.*126_*128dup | |
| ENST00000560968.5:c.1180_1182dup | ||
| ENST00000615446.4:c.151_153dup | ENSP00000483994.1:p.Ser51_Leu52insSer | |
| ENST00000617366.4:c.587-107_587-105dup | ENSP00000481967.1:n.587-107_587-105dup | |
| NM_000545.5:c.1363_1365dup , LRG_522t1:c.1363_1365dup | NP_000536.5:p.Ser455_Leu456insSer | |
| NM_000545.6:c.1363_1365dup | NP_000536.5:p.Ser455_Leu456insSer | |
| NM_001306179.1:c.1363_1365dup | NP_001293108.1:p.Ser455_Leu456insSer | |
| XM_005253931.2:c.1363_1365dup | XP_005253988.1:p.Ser455_Leu456insSer | |
| XM_024449168.1:c.1363_1365dup | XP_024304936.1:p.Ser455_Leu456insSer | |
| NM_000545.8:c.1363_1365dup MANE Select | NP_000536.6:p.Ser455_Leu456insSer | |
| NM_001306179.2:c.1363_1365dup | NP_001293108.2:p.Ser455_Leu456insSer |