Linked Data
ClinVar Variation Id:
1430791
ClinVar RCV Id:
RCV001952536
dbSNP Id:
rs1221971156
gnomAD v3:
19-11116925-ACGG-A
gnomAD v4:
19-11116925-ACGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11116926_11116928del , CM000681.2:g.11116926_11116928del | GRCh38 |
| NC_000019.9:g.11227602_11227604del , CM000681.1:g.11227602_11227604del | GRCh37 |
| NC_000019.8:g.11088602_11088604del | NCBI36 |
| NG_009060.1:g.32546_32548del , LRG_274:g.32546_32548del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2031_2033del | ENSP00000252444.6:p.Asn677_Gly678delinsLys | |
| ENST00000559340.2:c.1705+714_1705+716del | ENSP00000453696.2:n.1705+714_1705+716del | |
| ENST00000560467.2:c.1653_1655del | ENSP00000453513.2:p.Asn551_Gly552delinsLys | |
| ENST00000558518.6:c.1773_1775del MANE Select | ENSP00000454071.1:p.Asn591_Gly592delinsLys | |
| ENST00000252444.9:c.2027_2029del | ||
| ENST00000455727.6:c.1269_1271del | ENSP00000397829.2:p.Asn423_Gly424delinsLys | |
| ENST00000535915.5:c.1650_1652del | ENSP00000440520.1:p.Asn550_Gly551delinsLys | |
| ENST00000545707.5:c.1392_1394del | ENSP00000437639.1:p.Asn464_Gly465delinsLys | |
| ENST00000557933.5:c.1773_1775del | ENSP00000453557.1:p.Asn591_Gly592delinsLys | |
| ENST00000558013.5:c.1773_1775del | ENSP00000453346.1:p.Asn591_Gly592delinsLys | |
| ENST00000558518.5:c.1773_1775del | ENSP00000454071.1:p.Asn591_Gly592delinsLys | |
| ENST00000559340.1:c.426+714_426+716del | ||
| NM_000527.4:c.1773_1775del , LRG_274t1:c.1773_1775del | NP_000518.1:p.Asn591_Gly592delinsLys | |
| NM_001195798.1:c.1773_1775del | NP_001182727.1:p.Asn591_Gly592delinsLys | |
| NM_001195799.1:c.1650_1652del | NP_001182728.1:p.Asn550_Gly551delinsLys | |
| NM_001195800.1:c.1269_1271del | NP_001182729.1:p.Asn423_Gly424delinsLys | |
| NM_001195803.1:c.1392_1394del | NP_001182732.1:p.Asn464_Gly465delinsLys | |
| XM_011528010.1:c.1773_1775del | XP_011526312.1:p.Asn591_Gly592delinsLys | |
| XM_011528011.1:c.1392_1394del | XP_011526313.1:p.Asn464_Gly465delinsLys | |
| XR_244074.2:n.1855+714_1855+716del | ||
| XM_011528010.2:c.1773_1775del | XP_011526312.1:p.Asn591_Gly592delinsLys | |
| XR_001753685.2:n.1890_1892del | ||
| XR_001753686.2:n.1822+714_1822+716del | ||
| NM_000527.5:c.1773_1775del MANE Select | NP_000518.1:p.Asn591_Gly592delinsLys | |
| NM_001195798.2:c.1773_1775del | NP_001182727.1:p.Asn591_Gly592delinsLys | |
| NM_001195799.2:c.1650_1652del | NP_001182728.1:p.Asn550_Gly551delinsLys | |
| NM_001195800.2:c.1269_1271del | NP_001182729.1:p.Asn423_Gly424delinsLys | |
| NM_001195803.2:c.1392_1394del | NP_001182732.1:p.Asn464_Gly465delinsLys |