Linked Data
dbSNP Id:
rs1436612073
gnomAD v2:
9-414773-T-TCA
gnomAD v3:
9-414773-T-TCA
gnomAD v4:
9-414773-T-TCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.414773_414774insCA , CM000671.2:g.414773_414774insCA | GRCh38 |
| NC_000009.11:g.414773_414774insCA , CM000671.1:g.414773_414774insCA | GRCh37 |
| NC_000009.10:g.404773_404774insCA | NCBI36 |
| NG_017007.1:g.204909_204910insCA , LRG_196:g.204909_204910insCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382329.2:c.3231-9_3231-8insCA | ENSP00000371766.2:n.3231-9_3231-8insCA | |
| ENST00000683406.1:n.52-9_52-8insCA | ||
| ENST00000685949.1:n.2319-9_2319-8insCA | ||
| ENST00000432829.7:c.3531-9_3531-8insCA MANE Select | ENSP00000394888.3:n.3531-9_3531-8insCA | |
| ENST00000382329.1:c.1932-9_1932-8insCA | ENSP00000371766.1:n.1932-9_1932-8insCA | |
| ENST00000432829.6:c.3531-9_3531-8insCA | ENSP00000394888.3:n.3531-9_3531-8insCA | |
| ENST00000453981.5:c.3327-9_3327-8insCA | ENSP00000408464.2:n.3327-9_3327-8insCA | |
| ENST00000469391.5:c.3231-9_3231-8insCA | ENSP00000419438.1:n.3231-9_3231-8insCA | |
| ENST00000495184.5:n.5486-9_5486-8insCA | ||
| NM_001190458.1:c.3231-9_3231-8insCA | NP_001177387.1:n.3231-9_3231-8insCA | |
| NM_001193536.1:c.3327-9_3327-8insCA | NP_001180465.1:n.3327-9_3327-8insCA | |
| NM_203447.3:c.3531-9_3531-8insCA , LRG_196t1:c.3531-9_3531-8insCA | NP_982272.2:n.3531-9_3531-8insCA | |
| XM_011518045.1:c.3231-9_3231-8insCA | XP_011516347.1:n.3231-9_3231-8insCA | |
| XM_011518046.1:c.3393-9_3393-8insCA | XP_011516348.1:n.3393-9_3393-8insCA | |
| XM_011518047.1:c.3327-9_3327-8insCA | XP_011516349.1:n.3327-9_3327-8insCA | |
| XM_011518048.1:c.3327-9_3327-8insCA | XP_011516350.1:n.3327-9_3327-8insCA | |
| XM_011518049.1:c.1767-9_1767-8insCA | XP_011516351.1:n.1767-9_1767-8insCA | |
| XM_011518045.3:c.3231-9_3231-8insCA | XP_011516347.1:n.3231-9_3231-8insCA | |
| XM_011518046.2:c.3393-9_3393-8insCA | XP_011516348.1:n.3393-9_3393-8insCA | |
| XM_011518047.3:c.3327-9_3327-8insCA | XP_011516349.1:n.3327-9_3327-8insCA | |
| XM_011518048.2:c.3327-9_3327-8insCA | XP_011516350.1:n.3327-9_3327-8insCA | |
| XM_011518049.2:c.1767-9_1767-8insCA | XP_011516351.1:n.1767-9_1767-8insCA | |
| XM_017015173.1:c.3327-9_3327-8insCA | XP_016870662.1:n.3327-9_3327-8insCA | |
| XM_017015174.1:c.3393-9_3393-8insCA | XP_016870663.1:n.3393-9_3393-8insCA | |
| NM_001190458.2:c.3231-9_3231-8insCA | NP_001177387.1:n.3231-9_3231-8insCA | |
| NM_001193536.2:c.3327-9_3327-8insCA | NP_001180465.1:n.3327-9_3327-8insCA | |
| NM_203447.4:c.3531-9_3531-8insCA MANE Select | NP_982272.2:n.3531-9_3531-8insCA |