Linked Data
dbSNP Id:
rs3831308
gnomAD v2:
1-201029719-T-TCATCCTGCCCTACC
gnomAD v3:
1-201060591-T-TCATCCTGCCCTACC
gnomAD v4:
1-201060591-T-TCATCCTGCCCTACC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201060594_201060607dup , CM000663.2:g.201060594_201060607dup | GRCh38 |
| NC_000001.10:g.201029722_201029735dup , CM000663.1:g.201029722_201029735dup | GRCh37 |
| NC_000001.9:g.199296345_199296358dup | NCBI36 |
| NG_009816.1:g.56962_56975dup | |
| NG_009816.2:g.56962_56975dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000362061.4:c.3414+53_3414+66dup MANE Select | ENSP00000355192.3:n.3414+53_3414+66dup | |
| ENST00000679417.1:c.*2577+53_*2577+66dup | ENSP00000506706.1:n.*2577+53_*2577+66dup | |
| ENST00000680051.1:n.540+53_540+66dup | ||
| ENST00000680059.1:c.*932+53_*932+66dup | ENSP00000504944.1:n.*932+53_*932+66dup | |
| ENST00000681078.1:c.3414+53_3414+66dup | ENSP00000506645.1:n.3414+53_3414+66dup | |
| ENST00000681190.1:c.3414+53_3414+66dup | ENSP00000506428.1:n.3414+53_3414+66dup | |
| ENST00000681874.1:c.3354+53_3354+66dup | ENSP00000505162.1:n.3354+53_3354+66dup | |
| ENST00000362061.3:c.3414+53_3414+66dup | ENSP00000355192.3:n.3414+53_3414+66dup | |
| ENST00000367338.7:c.3414+53_3414+66dup | ENSP00000356307.3:n.3414+53_3414+66dup | |
| NM_000069.2:c.3414+53_3414+66dup | NP_000060.2:n.3414+53_3414+66dup | |
| XM_005245478.2:c.3414+53_3414+66dup | XP_005245535.1:n.3414+53_3414+66dup | |
| XM_005245478.3:c.3414+53_3414+66dup | XP_005245535.1:n.3414+53_3414+66dup | |
| NM_000069.3:c.3414+53_3414+66dup MANE Select | NP_000060.2:n.3414+53_3414+66dup |