Linked Data
ClinVar Variation Id:
11415
ClinVar RCV Id:
RCV000012168
dbSNP Id:
rs122467172
MyVariant Identifiers:
chrX:g.49108153_49108154delinsGC (hg19)
chrX:g.49251692_49251693delinsGC (hg38)
PubMed:
PMID:16741580
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49251692_49251693delinsGC , CM000685.2:g.49251692_49251693delinsGC | GRCh38 |
| NC_000023.10:g.49108153_49108154delinsGC , CM000685.1:g.49108153_49108154delinsGC | GRCh37 |
| NC_000023.9:g.48995097_48995098delinsGC | NCBI36 |
| NG_007392.1:g.18135_18136delinsGC , LRG_62:g.18135_18136delinsGC | |
| NG_021311.2:g.21228_21229delinsGC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376199.7:c.1012_1013delinsGC | ENSP00000365372.2:p.Phe338Ala | |
| ENST00000376207.10:c.1117_1118delinsGC MANE Select | ENSP00000365380.4:p.Phe373Ala | |
| ENST00000455775.7:c.1186_1187delinsGC | ENSP00000396415.3:p.Phe396Ala | |
| ENST00000518685.6:c.1036_1037delinsGC | ENSP00000428952.2:p.Phe346Ala | |
| ENST00000557224.6:c.1012_1013delinsGC | ENSP00000451208.1:p.Phe338Ala | |
| ENST00000651307.1:c.*32_*33delinsGC | ENSP00000498454.1:n.*32_*33delinsGC | |
| ENST00000376197.1:c.967_968delinsGC | ENSP00000365369.1:p.Phe323Ala | |
| ENST00000376199.6:c.1012_1013delinsGC | ENSP00000365372.2:p.Phe338Ala | |
| ENST00000376207.8:c.1117_1118delinsGC | ENSP00000365380.4:p.Phe373Ala | |
| ENST00000455775.6:c.1186_1187delinsGC | ENSP00000396415.3:p.Phe396Ala | |
| ENST00000518685.5:c.1012_1013delinsGC | ENSP00000428952.1:p.Phe338Ala | |
| ENST00000557224.5:c.1012_1013delinsGC | ENSP00000451208.1:p.Phe338Ala | |
| NM_001114377.1:c.1012_1013delinsGC | NP_001107849.1:p.Phe338Ala | |
| NM_014009.3:c.1117_1118delinsGC , LRG_62t1:c.1117_1118delinsGC | NP_054728.2:p.Phe373Ala | |
| XM_006724533.2:c.1186_1187delinsGC | XP_006724596.2:p.Phe396Ala | |
| XM_011543915.1:c.1336_1337delinsGC | XP_011542217.1:p.Phe446Ala | |
| XM_011543916.1:c.1336_1337delinsGC | XP_011542218.1:p.Phe446Ala | |
| XM_011543917.1:c.1135_1136delinsGC | XP_011542219.1:p.Phe379Ala | |
| XM_011543918.1:c.1372_1373delinsGC | XP_011542220.1:p.Phe458Ala | |
| XM_011543919.1:c.1336_1337delinsGC | XP_011542221.1:p.Phe446Ala | |
| XM_017029567.1:c.1063_1064delinsGC | XP_016885056.1:p.Phe355Ala | |
| NM_001114377.2:c.1012_1013delinsGC | NP_001107849.1:p.Phe338Ala | |
| NM_014009.4:c.1117_1118delinsGC MANE Select | NP_054728.2:p.Phe373Ala |