Linked Data
dbSNP Id:
rs1289882302
gnomAD v2:
22-40761062-T-TAAGC
gnomAD v4:
22-40365058-T-TAAGC
MyVariant Identifiers:
chr22:g.40761062_40761063insAAGC (hg19)
chr22:g.40365058_40365059insAAGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.40365059_40365062dup , CM000684.2:g.40365059_40365062dup | GRCh38 |
| NC_000022.10:g.40761063_40761066dup , CM000684.1:g.40761063_40761066dup | GRCh37 |
| NC_000022.9:g.39091009_39091012dup | NCBI36 |
| NG_007993.1:g.23560_23563dup | |
| NG_007993.2:g.23560_23563dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480775.3:c.*762+3_*762+6dup | ENSP00000485462.2:n.*762+3_*762+6dup | |
| ENST00000623287.4:c.*793+3_*793+6dup | ENSP00000485437.1:n.*793+3_*793+6dup | |
| ENST00000623632.4:c.1059+3_1059+6dup | ENSP00000485288.2:n.1059+3_1059+6dup | |
| ENST00000625194.4:c.1410+3_1410+6dup | ENSP00000485289.2:n.1410+3_1410+6dup | |
| ENST00000636433.1:n.1390+3_1390+6dup | ||
| ENST00000636714.1:c.1368+3_1368+6dup | ENSP00000490946.1:n.1368+3_1368+6dup | |
| ENST00000637666.2:c.1191+694_1191+697dup | ENSP00000489696.2:n.1191+694_1191+697dup | |
| ENST00000637669.1:c.1368+3_1368+6dup | ENSP00000489728.1:n.1368+3_1368+6dup | |
| ENST00000639722.1:c.*1064+3_*1064+6dup | ENSP00000492828.1:n.*1064+3_*1064+6dup | |
| ENST00000674592.1:n.2882+3_2882+6dup | ||
| ENST00000675622.1:n.4435+3_4435+6dup | ||
| ENST00000679609.1:c.*978+3_*978+6dup | ENSP00000506592.1:n.*978+3_*978+6dup | |
| ENST00000679656.1:n.2053+3_2053+6dup | ||
| ENST00000679723.1:c.1323+3_1323+6dup | ENSP00000505155.1:n.1323+3_1323+6dup | |
| ENST00000679845.1:n.1676+3_1676+6dup | ||
| ENST00000679904.1:n.1764+3_1764+6dup | ||
| ENST00000680378.1:c.1455+3_1455+6dup | ENSP00000505556.1:n.1455+3_1455+6dup | |
| ENST00000680444.1:c.*731+3_*731+6dup | ENSP00000505298.1:n.*731+3_*731+6dup | |
| ENST00000680978.1:c.1368+3_1368+6dup | ENSP00000505244.1:n.1368+3_1368+6dup | |
| ENST00000681003.1:n.831+3_831+6dup | ||
| ENST00000681159.1:n.2772+3_2772+6dup | ||
| ENST00000216194.11:c.1410+3_1410+6dup | ENSP00000216194.8:n.1410+3_1410+6dup | |
| ENST00000342312.9:c.1191+694_1191+697dup | ENSP00000341429.6:n.1191+694_1191+697dup | |
| ENST00000423176.6:c.95+3_95+6dup | ||
| ENST00000498234.2:c.26+3_26+6dup | ||
| ENST00000623063.3:c.1368+3_1368+6dup MANE Select | ENSP00000485525.1:n.1368+3_1368+6dup | |
| ENST00000623387.1:n.499+3_499+6dup | ||
| ENST00000623869.3:c.99+3_99+6dup | ENSP00000485211.1:n.99+3_99+6dup | |
| ENST00000624027.1:c.95+3_95+6dup | ||
| ENST00000625194.3:c.997+3_997+6dup | ||
| NM_000026.2:c.1368+3_1368+6dup | NP_000017.1:n.1368+3_1368+6dup | |
| NM_001123378.1:c.1191+694_1191+697dup | NP_001116850.1:n.1191+694_1191+697dup | |
| XM_011529976.1:c.1368+3_1368+6dup | XP_011528278.1:n.1368+3_1368+6dup | |
| XM_011529977.1:c.1368+3_1368+6dup | XP_011528279.1:n.1368+3_1368+6dup | |
| XM_011529978.1:c.1191+694_1191+697dup | XP_011528280.1:n.1191+694_1191+697dup | |
| XM_011529979.1:c.1368+3_1368+6dup | XP_011528281.1:n.1368+3_1368+6dup | |
| XM_011529980.1:c.1191+694_1191+697dup | XP_011528282.1:n.1191+694_1191+697dup | |
| XM_011529981.1:c.903+3_903+6dup | XP_011528283.1:n.903+3_903+6dup | |
| XM_011529982.1:c.537+3_537+6dup | XP_011528284.1:n.537+3_537+6dup | |
| XR_937824.1:n.1458+3_1458+6dup | ||
| XR_937825.1:n.1281+694_1281+697dup | ||
| NM_000026.3:c.1368+3_1368+6dup | NP_000017.1:n.1368+3_1368+6dup | |
| NM_001123378.2:c.1191+694_1191+697dup | NP_001116850.1:n.1191+694_1191+697dup | |
| NM_001317923.1:c.1176+3_1176+6dup | NP_001304852.1:n.1176+3_1176+6dup | |
| NM_001363840.1:c.1368+3_1368+6dup | NP_001350769.1:n.1368+3_1368+6dup | |
| NR_134256.1:n.1458+3_1458+6dup | ||
| XM_011529977.3:c.1368+3_1368+6dup | XP_011528279.1:n.1368+3_1368+6dup | |
| XM_011529980.3:c.1191+694_1191+697dup | XP_011528282.1:n.1191+694_1191+697dup | |
| XM_017028636.1:c.1323+3_1323+6dup | XP_016884125.1:n.1323+3_1323+6dup | |
| XM_017028637.1:c.1323+3_1323+6dup | XP_016884126.1:n.1323+3_1323+6dup | |
| XM_017028638.1:c.903+3_903+6dup | XP_016884127.1:n.903+3_903+6dup | |
| XM_017028639.2:c.903+3_903+6dup | XP_016884128.1:n.903+3_903+6dup | |
| XM_017028640.1:c.537+3_537+6dup | XP_016884129.1:n.537+3_537+6dup | |
| XM_024452166.1:c.1146+694_1146+697dup | XP_024307934.1:n.1146+694_1146+697dup | |
| XR_001755176.2:n.1610+3_1610+6dup | ||
| XR_002958670.1:n.1395+3_1395+6dup | ||
| XR_937825.3:n.1279+694_1279+697dup | ||
| NM_000026.4:c.1368+3_1368+6dup MANE Select | NP_000017.1:n.1368+3_1368+6dup | |
| NM_001363840.2:c.1368+3_1368+6dup | NP_001350769.1:n.1368+3_1368+6dup | |
| NM_001123378.3:c.1191+694_1191+697dup | NP_001116850.1:n.1191+694_1191+697dup | |
| NM_001317923.2:c.1176+3_1176+6dup | NP_001304852.1:n.1176+3_1176+6dup | |
| NM_001363840.3:c.1368+3_1368+6dup | NP_001350769.1:n.1368+3_1368+6dup | |
| NR_134256.2:n.1458+3_1458+6dup |