Linked Data
ClinVar Variation Id:
2874926
ClinVar RCV Id:
RCV003646800
dbSNP Id:
rs759393085
ExAC:
14:24709615 TTC / T
gnomAD v2:
14-24709615-TTC-T
gnomAD v4:
14-24240409-TTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24240410_24240411del , CM000676.2:g.24240410_24240411del | GRCh38 |
| NC_000014.8:g.24709616_24709617del , CM000676.1:g.24709616_24709617del | GRCh37 |
| NC_000014.7:g.23779456_23779457del | NCBI36 |
| NG_016650.1:g.7264_7265del | |
| NG_054634.1:g.12994_12995del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557915.2:n.1372_1373del | ||
| ENST00000557921.3:c.*4_*5del | ENSP00000453157.3:n.*4_*5del | |
| ENST00000699682.1:n.1459_1460del | ||
| ENST00000699683.1:n.1509_1510del | ||
| ENST00000699684.1:c.*662_*663del | ENSP00000514523.1:n.*662_*663del | |
| ENST00000699685.1:n.1273_1274del | ||
| ENST00000699686.1:c.*4_*5del | ENSP00000514524.1:n.*4_*5del | |
| ENST00000699687.1:c.*4_*5del | ENSP00000514525.1:n.*4_*5del | |
| ENST00000699688.1:n.1269_1270del | ||
| ENST00000699689.1:n.1625_1626del | ||
| ENST00000699690.1:n.1822_1823del | ||
| ENST00000699691.1:n.1966_1967del | ||
| ENST00000699693.1:n.1478+8_1478+9del | ||
| ENST00000699694.1:n.1728_1729del | ||
| ENST00000699695.1:c.*433+8_*433+9del | ENSP00000514526.1:n.*433+8_*433+9del | |
| ENST00000699696.1:n.1372_1373del | ||
| ENST00000699697.1:c.1061+8_1061+9del | ENSP00000514527.1:n.1061+8_1061+9del | |
| ENST00000699698.1:n.982+8_982+9del | ||
| ENST00000699699.1:n.1393_1394del | ||
| ENST00000699700.1:n.1516_1517del | ||
| ENST00000699701.1:c.*449_*450del | ENSP00000514528.1:n.*449_*450del | |
| ENST00000267415.12:c.1061+8_1061+9del MANE Select | ENSP00000267415.7:n.1061+8_1061+9del | |
| ENST00000646753.1:c.956+8_956+9del | ENSP00000494065.1:n.956+8_956+9del | |
| ENST00000267415.11:c.1061+8_1061+9del | ENSP00000267415.7:n.1061+8_1061+9del | |
| ENST00000399423.8:c.*4_*5del | ENSP00000382350.4:n.*4_*5del | |
| ENST00000557915.1:n.188_189del | ||
| ENST00000558566.1:c.*441_*442del | ENSP00000453025.1:n.*441_*442del | |
| ENST00000559969.5:c.827_828del | ||
| ENST00000560019.5:c.56+8_56+9del | ENSP00000453113.1:n.56+8_56+9del | |
| ENST00000626689.2:c.*433+8_*433+9del | ENSP00000486681.1:n.*433+8_*433+9del | |
| NM_001099274.1:c.1061+8_1061+9del | NP_001092744.1:n.1061+8_1061+9del | |
| NM_012461.2:c.*4_*5del | NP_036593.2:n.*4_*5del | |
| XM_005267528.2:c.1061+8_1061+9del | XP_005267585.1:n.1061+8_1061+9del | |
| XM_005267529.2:c.956+8_956+9del | XP_005267586.1:n.956+8_956+9del | |
| NM_001099274.2:c.1061+8_1061+9del | NP_001092744.1:n.1061+8_1061+9del | |
| NM_001363668.1:c.956+8_956+9del | NP_001350597.1:n.956+8_956+9del | |
| NM_012461.3:c.*4_*5del | NP_036593.2:n.*4_*5del | |
| XM_011536642.2:c.*449_*450del | XP_011534944.1:n.*449_*450del | |
| XM_017021216.2:c.419+8_419+9del | XP_016876705.1:n.419+8_419+9del | |
| XM_017021217.1:c.419+8_419+9del | XP_016876706.1:n.419+8_419+9del | |
| NM_001099274.3:c.1061+8_1061+9del MANE Select | NP_001092744.1:n.1061+8_1061+9del | |
| NM_001363668.2:c.956+8_956+9del | NP_001350597.1:n.956+8_956+9del |