Linked Data
dbSNP Id:
rs778632095
ExAC:
18:43490522 T / TAAC
gnomAD v2:
18-43490522-T-TAAC
gnomAD v4:
18-45910557-T-TAAC
MyVariant Identifiers:
chr18:g.43490522_43490523insAAC (hg19)
chr18:g.45910557_45910558insAAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.45910558_45910560dup , CM000680.2:g.45910558_45910560dup | GRCh38 |
| NC_000018.9:g.43490523_43490525dup , CM000680.1:g.43490523_43490525dup | GRCh37 |
| NC_000018.8:g.41744521_41744523dup | NCBI36 |
| NG_042838.1:g.61780_61782dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586655.2:n.2350_2352dup | ||
| ENST00000587884.2:c.4166_4168dup | ENSP00000466990.2:p.Gly1389_Tyr1390insCys | |
| ENST00000590884.6:c.4166_4168dup | ENSP00000466403.2:p.Gly1389_Tyr1390insCys | |
| ENST00000592272.6:c.4166_4168dup | ENSP00000467464.2:p.Gly1389_Tyr1390insCys | |
| ENST00000696482.1:c.3906_3908dup | ENSP00000512656.1:n.3906_3908dup | |
| ENST00000696483.1:c.4166_4168dup | ENSP00000512657.1:p.Gly1389_Tyr1390insCys | |
| ENST00000696484.1:c.4166_4168dup | ENSP00000512658.1:p.Gly1389_Tyr1390insCys | |
| ENST00000696485.1:c.4166_4168dup | ENSP00000512659.1:p.Gly1389_Tyr1390insCys | |
| ENST00000696489.1:c.4166_4168dup | ENSP00000512660.1:p.Gly1389_Tyr1390insCys | |
| ENST00000696490.1:c.4166_4168dup | ENSP00000512661.1:p.Gly1389_Tyr1390insCys | |
| ENST00000282041.11:c.4166_4168dup MANE Select | ENSP00000282041.4:p.Gly1389_Tyr1390insCys | |
| ENST00000282041.9:c.4166_4168dup | ENSP00000282041.4:p.Gly1389_Tyr1390insCys | |
| ENST00000585906.5:n.945_947dup | ||
| ENST00000587884.1:c.791_793dup | ENSP00000466990.1:p.Gly264_Tyr265insCys | |
| ENST00000587974.1:n.4201_4203dup | ||
| ENST00000590884.5:c.791_793dup | ENSP00000466403.1:p.Gly264_Tyr265insCys | |
| ENST00000592272.5:c.791_793dup | ENSP00000467464.1:p.Gly264_Tyr265insCys | |
| NM_020964.2:c.4166_4168dup | NP_066015.2:p.Gly1389_Tyr1390insCys | |
| XM_011526120.1:c.4193_4195dup | XP_011524422.1:p.Gly1398_Tyr1399insCys | |
| XM_011526121.1:c.4193_4195dup | XP_011524423.1:p.Gly1398_Tyr1399insCys | |
| XM_011526122.1:c.4166_4168dup | XP_011524424.1:p.Gly1389_Tyr1390insCys | |
| XM_011526123.1:c.4193_4195dup | XP_011524425.1:p.Gly1398_Tyr1399insCys | |
| XM_011526124.1:c.4193_4195dup | XP_011524426.1:p.Gly1398_Tyr1399insCys | |
| XM_011526125.1:c.4052_4054dup | XP_011524427.1:p.Gly1351_Tyr1352insCys | |
| XM_011526126.1:c.3128_3130dup | XP_011524428.1:p.Gly1043_Tyr1044insCys | |
| XM_011526127.1:c.4193_4195dup | XP_011524429.1:p.Gly1398_Tyr1399insCys | |
| XM_011526128.1:c.4193_4195dup | XP_011524430.1:p.Gly1398_Tyr1399insCys | |
| XR_935244.1:n.4266_4268dup | ||
| NM_020964.3:c.4166_4168dup MANE Select | NP_066015.2:p.Gly1389_Tyr1390insCys | |
| XM_017025889.1:c.4166_4168dup | XP_016881378.1:p.Gly1389_Tyr1390insCys | |
| XM_017025890.2:c.4166_4168dup | XP_016881379.1:p.Gly1389_Tyr1390insCys | |
| XM_017025891.1:c.4025_4027dup | XP_016881380.1:p.Gly1342_Tyr1343insCys | |
| XM_017025892.1:c.3101_3103dup | XP_016881381.1:p.Gly1034_Tyr1035insCys | |
| XM_017025893.1:c.791_793dup | XP_016881382.1:p.Gly264_Tyr265insCys | |
| XR_001753256.1:n.4248_4250dup | ||
| XR_001753257.1:n.4248_4250dup |