Linked Data
dbSNP Id:
rs781398922
ExAC:
18:21124879 A / ACTG
gnomAD v2:
18-21124879-A-ACTG
gnomAD v4:
18-23544915-A-ACTG
MyVariant Identifiers:
chr18:g.21124879_21124880insCTG (hg19)
chr18:g.23544915_23544916insCTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23544919_23544921dup , CM000680.2:g.23544919_23544921dup | GRCh38 |
| NC_000018.9:g.21124883_21124885dup , CM000680.1:g.21124883_21124885dup | GRCh37 |
| NC_000018.8:g.19378881_19378883dup | NCBI36 |
| NG_012795.1:g.46700_46702dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269228.10:c.1947+42_1947+44dup MANE Select | ENSP00000269228.4:n.1947+42_1947+44dup | |
| ENST00000269228.9:c.1947+42_1947+44dup | ENSP00000269228.4:n.1947+42_1947+44dup | |
| ENST00000540608.5:n.1861+42_1861+44dup | ||
| ENST00000591051.1:c.1025+42_1025+44dup | ||
| NM_000271.4:c.1947+42_1947+44dup | NP_000262.2:n.1947+42_1947+44dup | |
| XM_005258277.1:c.1998+42_1998+44dup | XP_005258334.1:n.1998+42_1998+44dup | |
| XM_005258278.3:c.1998+42_1998+44dup | XP_005258335.1:n.1998+42_1998+44dup | |
| XM_005258279.1:c.1947+42_1947+44dup | XP_005258336.1:n.1947+42_1947+44dup | |
| XM_006722479.2:c.1998+42_1998+44dup | XP_006722542.1:n.1998+42_1998+44dup | |
| XM_011526015.1:c.1533+42_1533+44dup | XP_011524317.1:n.1533+42_1533+44dup | |
| XM_005258278.5:c.1998+42_1998+44dup | XP_005258335.1:n.1998+42_1998+44dup | |
| XM_005258279.2:c.1947+42_1947+44dup | XP_005258336.1:n.1947+42_1947+44dup | |
| XM_006722479.3:c.1998+42_1998+44dup | XP_006722542.1:n.1998+42_1998+44dup | |
| XM_017025784.1:c.1998+42_1998+44dup | XP_016881273.1:n.1998+42_1998+44dup | |
| XM_017025785.1:c.1998+42_1998+44dup | XP_016881274.1:n.1998+42_1998+44dup | |
| XM_017025786.1:c.1947+42_1947+44dup | XP_016881275.1:n.1947+42_1947+44dup | |
| XM_017025787.1:c.1947+42_1947+44dup | XP_016881276.1:n.1947+42_1947+44dup | |
| NM_000271.5:c.1947+42_1947+44dup MANE Select | NP_000262.2:n.1947+42_1947+44dup |