Linked Data
dbSNP Id:
rs749901265
ExAC:
2:157435529 GTCTA / G
gnomAD v2:
2-157435529-GTCTA-G
gnomAD v3:
2-156579017-GTCTA-G
gnomAD v4:
2-156579017-GTCTA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.156579025_156579028del , CM000664.2:g.156579025_156579028del | GRCh38 |
| NC_000002.11:g.157435537_157435540del , CM000664.1:g.157435537_157435540del | GRCh37 |
| NC_000002.10:g.157143783_157143786del | NCBI36 |
| NG_016606.1:g.148573_148576del | |
| NG_016606.2:g.148573_148576del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000438166.7:c.1880+24_1880+27del MANE Select | ENSP00000409708.2:n.1880+24_1880+27del | |
| ENST00000310454.10:c.1880+24_1880+27del | ENSP00000308610.5:n.1880+24_1880+27del | |
| ENST00000409125.8:c.1502+24_1502+27del | ENSP00000386484.5:n.1502+24_1502+27del | |
| ENST00000409674.5:c.1880+24_1880+27del | ENSP00000386425.1:n.1880+24_1880+27del | |
| ENST00000409861.5:c.1880+24_1880+27del | ENSP00000386626.1:n.1880+24_1880+27del | |
| ENST00000438166.6:c.1880+24_1880+27del | ENSP00000409708.2:n.1880+24_1880+27del | |
| ENST00000464846.5:n.258_261del | ||
| ENST00000540309.5:c.1135-61_1135-58del | ENSP00000440892.1:n.1135-61_1135-58del | |
| NM_000408.4:c.1880+24_1880+27del | NP_000399.3:n.1880+24_1880+27del | |
| NM_001083112.2:c.1880+24_1880+27del | NP_001076581.2:n.1880+24_1880+27del | |
| XM_005246469.1:c.1880+24_1880+27del | XP_005246526.1:n.1880+24_1880+27del | |
| XM_005246470.3:c.1778+24_1778+27del | XP_005246527.1:n.1778+24_1778+27del | |
| XM_011510977.1:c.1880+24_1880+27del | XP_011509279.1:n.1880+24_1880+27del | |
| XM_011510978.1:c.1778+24_1778+27del | XP_011509280.1:n.1778+24_1778+27del | |
| XM_011510979.1:c.1502+24_1502+27del | XP_011509281.1:n.1502+24_1502+27del | |
| XM_011510980.1:c.1199+24_1199+27del | XP_011509282.1:n.1199+24_1199+27del | |
| XM_005246469.2:c.1880+24_1880+27del | XP_005246526.1:n.1880+24_1880+27del | |
| XM_011510977.2:c.1880+24_1880+27del | XP_011509279.1:n.1880+24_1880+27del | |
| XM_011510978.2:c.1778+24_1778+27del | XP_011509280.1:n.1778+24_1778+27del | |
| XM_017003830.1:c.1880+24_1880+27del | XP_016859319.1:n.1880+24_1880+27del | |
| XM_024452798.1:c.1880+24_1880+27del | XP_024308566.1:n.1880+24_1880+27del | |
| NM_000408.5:c.1880+24_1880+27del MANE Select | NP_000399.3:n.1880+24_1880+27del | |
| NM_001083112.3:c.1880+24_1880+27del | NP_001076581.2:n.1880+24_1880+27del |