Linked Data
ClinVar Variation Id:
424157
ClinVar RCV Id:
RCV001851270
dbSNP Id:
rs761370843
ExAC:
17:44108846 CTG / C
gnomAD v2:
17-44108846-CTG-C
gnomAD v3:
17-46031480-CTG-C
gnomAD v4:
17-46031480-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.46031483_46031484del , CM000679.2:g.46031483_46031484del | GRCh38 |
| NC_000017.10:g.44108849_44108850del , CM000679.1:g.44108849_44108850del | GRCh37 |
| NC_000017.9:g.41464696_41464697del | NCBI36 |
| NG_032784.1:g.198893_198894del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000432791.7:c.3312_3313del MANE Select | ENSP00000387393.3:p.His1104GlnfsTer13 | |
| ENST00000572904.6:c.3312_3313del | ENSP00000461484.1:p.His1104GlnfsTer13 | |
| ENST00000574590.6:c.3309_3310del | ENSP00000461812.2:p.His1103GlnfsTer13 | |
| ENST00000575318.6:c.3120_3121del | ENSP00000461299.1:p.His1040GlnfsTer13 | |
| ENST00000638275.1:c.3120_3121del | ENSP00000492576.1:p.His1040GlnfsTer13 | |
| ENST00000648792.1:c.3180_3181del | ENSP00000497628.1:p.His1060GlnfsTer13 | |
| ENST00000262419.10:c.3312_3313del | ENSP00000262419.6:p.His1104GlnfsTer13 | |
| ENST00000432791.5:c.3309_3310del | ENSP00000387393.2:p.His1103GlnfsTer13 | |
| ENST00000572218.5:n.7529_7530del | ||
| ENST00000572904.5:c.3312_3313del | ENSP00000461484.1:p.His1104GlnfsTer13 | |
| ENST00000574590.5:c.3312_3313del | ENSP00000461812.1:p.His1104GlnfsTer13 | |
| ENST00000574963.1:n.1085_1086del | ||
| ENST00000575318.5:c.3120_3121del | ENSP00000461299.1:p.His1040GlnfsTer13 | |
| ENST00000576870.5:n.1284_1285del | ||
| NM_001193465.1:c.3309_3310del | NP_001180394.1:p.His1103GlnfsTer13 | |
| NM_001193466.1:c.3312_3313del | NP_001180395.1:p.His1104GlnfsTer13 | |
| NM_015443.3:c.3312_3313del | NP_056258.1:p.His1104GlnfsTer13 | |
| XM_006721823.1:c.3312_3313del | XP_006721886.1:p.His1104GlnfsTer13 | |
| XM_006721824.2:c.3312_3313del | XP_006721887.1:p.His1104GlnfsTer13 | |
| XM_011524628.1:c.3309_3310del | XP_011522930.1:p.His1103GlnfsTer13 | |
| XM_011524629.1:c.3210_3211del | XP_011522931.1:p.His1070GlnfsTer13 | |
| XM_011524630.1:c.3123_3124del | XP_011522932.1:p.His1041GlnfsTer13 | |
| XM_011524631.1:c.3120_3121del | XP_011522933.1:p.His1040GlnfsTer13 | |
| XM_011524632.1:c.2082_2083del | XP_011522934.1:p.His694GlnfsTer13 | |
| XM_006721823.2:c.3312_3313del | XP_006721886.1:p.His1104GlnfsTer13 | |
| XM_006721824.4:c.3312_3313del | XP_006721887.1:p.His1104GlnfsTer13 | |
| XM_011524628.3:c.3309_3310del | XP_011522930.1:p.His1103GlnfsTer13 | |
| XM_011524629.3:c.3210_3211del | XP_011522931.1:p.His1070GlnfsTer13 | |
| XM_011524630.3:c.3123_3124del | XP_011522932.1:p.His1041GlnfsTer13 | |
| XM_011524631.3:c.3120_3121del | XP_011522933.1:p.His1040GlnfsTer13 | |
| XM_011524632.3:c.2082_2083del | XP_011522934.1:p.His694GlnfsTer13 | |
| XM_017024488.2:c.3120_3121del | XP_016879977.1:p.His1040GlnfsTer13 | |
| NM_001193466.2:c.3312_3313del | NP_001180395.1:p.His1104GlnfsTer13 | |
| NM_015443.4:c.3312_3313del MANE Select | NP_056258.1:p.His1104GlnfsTer13 | |
| NM_001193465.2:c.3309_3310del | NP_001180394.1:p.His1103GlnfsTer13 | |
| NM_001379198.1:c.3312_3313del | NP_001366127.1:p.His1104GlnfsTer13 |