Linked Data
gnomAD v3:
18-23544949-C-CCCCCCCCCCCCCCCCCCCCCA
gnomAD v4:
18-23544949-C-CCCCCCCCCCCCCCCCCCCCCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23544952_23544953insCCCCCCCCCCCCCCCCCACCC , CM000680.2:g.23544952_23544953insCCCCCCCCCCCCCCCCCACCC | GRCh38 |
| NC_000018.9:g.21124916_21124917insCCCCCCCCCCCCCCCCCACCC , CM000680.1:g.21124916_21124917insCCCCCCCCCCCCCCCCCACCC | GRCh37 |
| NC_000018.8:g.19378914_19378915insCCCCCCCCCCCCCCCCCACCC | NCBI36 |
| NG_012795.1:g.46668_46669insTGGGGGGGGGGGGGGGGGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269228.10:c.1947+10_1947+11insTGGGGGGGGGGGGGGGGGGGG MANE Select | ENSP00000269228.4:n.1947+10_1947+11insTGGGGGGGGGGGGGGGGGGGG | |
| ENST00000269228.9:c.1947+10_1947+11insTGGGGGGGGGGGGGGGGGGGG | ENSP00000269228.4:n.1947+10_1947+11insTGGGGGGGGGGGGGGGGGGGG | |
| ENST00000540608.5:n.1861+10_1861+11insTGGGGGGGGGGGGGGGGGGGG | ||
| ENST00000591051.1:c.1025+10_1025+11insTGGGGGGGGGGGGGGGGGGGG | ||
| NM_000271.4:c.1947+10_1947+11insTGGGGGGGGGGGGGGGGGGGG | NP_000262.2:n.1947+10_1947+11insTGGGGGGGGGGGGGGGGGGGG | |
| XM_005258277.1:c.1998+10_1998+11insTGGGGGGGGGGGGGGGGGGGG | XP_005258334.1:n.1998+10_1998+11insTGGGGGGGGGGGGGGGGGGGG | |
| XM_005258278.3:c.1998+10_1998+11insTGGGGGGGGGGGGGGGGGGGG | XP_005258335.1:n.1998+10_1998+11insTGGGGGGGGGGGGGGGGGGGG | |
| XM_005258279.1:c.1947+10_1947+11insTGGGGGGGGGGGGGGGGGGGG | XP_005258336.1:n.1947+10_1947+11insTGGGGGGGGGGGGGGGGGGGG | |
| XM_006722479.2:c.1998+10_1998+11insTGGGGGGGGGGGGGGGGGGGG | XP_006722542.1:n.1998+10_1998+11insTGGGGGGGGGGGGGGGGGGGG | |
| XM_011526015.1:c.1533+10_1533+11insTGGGGGGGGGGGGGGGGGGGG | XP_011524317.1:n.1533+10_1533+11insTGGGGGGGGGGGGGGGGGGGG | |
| XM_005258278.5:c.1998+10_1998+11insTGGGGGGGGGGGGGGGGGGGG | XP_005258335.1:n.1998+10_1998+11insTGGGGGGGGGGGGGGGGGGGG | |
| XM_005258279.2:c.1947+10_1947+11insTGGGGGGGGGGGGGGGGGGGG | XP_005258336.1:n.1947+10_1947+11insTGGGGGGGGGGGGGGGGGGGG | |
| XM_006722479.3:c.1998+10_1998+11insTGGGGGGGGGGGGGGGGGGGG | XP_006722542.1:n.1998+10_1998+11insTGGGGGGGGGGGGGGGGGGGG | |
| XM_017025784.1:c.1998+10_1998+11insTGGGGGGGGGGGGGGGGGGGG | XP_016881273.1:n.1998+10_1998+11insTGGGGGGGGGGGGGGGGGGGG | |
| XM_017025785.1:c.1998+10_1998+11insTGGGGGGGGGGGGGGGGGGGG | XP_016881274.1:n.1998+10_1998+11insTGGGGGGGGGGGGGGGGGGGG | |
| XM_017025786.1:c.1947+10_1947+11insTGGGGGGGGGGGGGGGGGGGG | XP_016881275.1:n.1947+10_1947+11insTGGGGGGGGGGGGGGGGGGGG | |
| XM_017025787.1:c.1947+10_1947+11insTGGGGGGGGGGGGGGGGGGGG | XP_016881276.1:n.1947+10_1947+11insTGGGGGGGGGGGGGGGGGGGG | |
| NM_000271.5:c.1947+10_1947+11insTGGGGGGGGGGGGGGGGGGGG MANE Select | NP_000262.2:n.1947+10_1947+11insTGGGGGGGGGGGGGGGGGGGG |