Linked Data
dbSNP Id:
rs780845846
ExAC:
17:61574546 G / GCCTGGA
gnomAD v2:
17-61574546-G-GCCTGGA
gnomAD v4:
17-63497185-G-GCCTGGA
MyVariant Identifiers:
chr17:g.61574546_61574547insCCTGGA (hg19)
chr17:g.63497185_63497186insCCTGGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63497192_63497197dup , CM000679.2:g.63497192_63497197dup | GRCh38 |
| NC_000017.10:g.61574553_61574558dup , CM000679.1:g.61574553_61574558dup | GRCh37 |
| NC_000017.9:g.58928285_58928290dup | NCBI36 |
| NG_011648.1:g.25120_25125dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.3747_3752dup MANE Select | ENSP00000290866.4:p.Asp1251_Ala1252insLeuAsp | |
| ENST00000290863.10:c.2025_2030dup | ENSP00000290863.6:p.Asp677_Ala678insLeuAsp | |
| ENST00000290866.9:c.3747_3752dup | ENSP00000290866.4:p.Asp1251_Ala1252insLeuAsp | |
| ENST00000413513.7:c.1902_1907dup | ENSP00000392247.3:p.Asp636_Ala637insLeuAsp | |
| ENST00000428043.5:c.*169_*174dup | ENSP00000397593.2:n.*169_*174dup | |
| ENST00000577647.2:c.1969+207_1969+212dup | ENSP00000464149.1:n.1969+207_1969+212dup | |
| ENST00000578839.5:c.*1502_*1507dup | ENSP00000462110.2:n.*1502_*1507dup | |
| ENST00000579314.5:c.*1476_*1481dup | ENSP00000462599.1:n.*1476_*1481dup | |
| NM_000789.3:c.3747_3752dup | NP_000780.1:p.Asp1251_Ala1252insLeuAsp | |
| NM_001178057.1:c.1902_1907dup | NP_001171528.1:p.Asp636_Ala637insLeuAsp | |
| NM_152830.2:c.2025_2030dup | NP_690043.1:p.Asp677_Ala678insLeuAsp | |
| XM_005257110.1:c.3198_3203dup | XP_005257167.1:p.Asp1068_Ala1069insLeuAsp | |
| XM_006721737.2:c.2085_2090dup | XP_006721800.2:p.Asp697_Ala698insLeuAsp | |
| XM_006721737.3:c.2085_2090dup | XP_006721800.2:p.Asp697_Ala698insLeuAsp | |
| NM_000789.4:c.3747_3752dup MANE Select | NP_000780.1:p.Asp1251_Ala1252insLeuAsp | |
| NM_001178057.2:c.1902_1907dup | NP_001171528.1:p.Asp636_Ala637insLeuAsp | |
| NM_152830.3:c.2025_2030dup | NP_690043.1:p.Asp677_Ala678insLeuAsp | |
| NM_001382700.1:c.3180_3185dup | NP_001369629.1:p.Asp1062_Ala1063insLeuAsp | |
| NM_001382701.1:c.2895_2900dup | NP_001369630.1:p.Asp967_Ala968insLeuAsp | |
| NM_001382702.1:c.1362_1367dup | NP_001369631.1:p.Asp456_Ala457insLeuAsp | |
| NR_168483.1:n.2125_2130dup |