Linked Data
ClinVar Variation Id:
3059849
ClinVar RCV Id:
RCV003981878
dbSNP Id:
rs200488894
ExAC:
6:31324025 G / GTC
gnomAD v2:
6-31324025-G-GTC
gnomAD v3:
6-31356248-G-GTC
gnomAD v4:
6-31356248-G-GTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31356248_31356249insTC , CM000668.2:g.31356248_31356249insTC | GRCh38 |
| NC_000006.11:g.31324025_31324026insTC , CM000668.1:g.31324025_31324026insTC | GRCh37 |
| NC_000006.10:g.31432004_31432005insTC | NCBI36 |
| NG_023187.1:g.5964_5965insGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.2010_2011insGA | ||
| ENST00000481849.6:n.2010_2011insGA | ||
| ENST00000497377.6:n.2010_2011insGA | ||
| ENST00000640094.2:c.537_538insGA | ENSP00000491275.2:p.Arg180AspfsTer? | |
| ENST00000696558.1:c.537_538insGA | ENSP00000512716.1:p.Arg180AspfsTer? | |
| ENST00000696559.1:c.537_538insGA | ENSP00000512717.1:p.Arg180AspfsTer? | |
| ENST00000696560.1:c.537_538insGA | ENSP00000512718.1:p.Arg180AspfsTer? | |
| ENST00000696561.1:c.537_538insGA | ENSP00000512719.1:p.Arg180AspfsTer? | |
| ENST00000696562.1:c.537_538insGA | ENSP00000512720.1:p.Arg180AspfsTer? | |
| ENST00000412585.7:c.537_538insGA MANE Select | ENSP00000399168.2:p.Arg180AspfsTer? | |
| ENST00000412585.6:c.537_538insGA | ENSP00000399168.2:p.Arg180AspfsTer? | |
| ENST00000434333.1:c.570_571insGA | ENSP00000405931.1:p.Arg191AspfsTer? | |
| ENST00000474381.1:n.412_413insGA | ||
| ENST00000498007.1:n.803_804insGA | ||
| NM_005514.6:c.537_538insGA | NP_005505.2:p.Arg180AspfsTer? | |
| XM_011514556.1:c.570_571insGA | XP_011512858.1:p.Arg191AspfsTer? | |
| XM_011514557.1:c.537_538insGA | XP_011512859.1:p.Arg180AspfsTer? | |
| XR_926175.1:n.547_548insGA | ||
| NM_005514.7:c.537_538insGA | NP_005505.2:p.Arg180AspfsTer? | |
| NM_005514.8:c.537_538insGA MANE Select | NP_005505.2:p.Arg180AspfsTer? |