Linked Data
ClinVar Variation Id:
475543
ClinVar RCV Id:
RCV000537734
dbSNP Id:
rs752066748
gnomAD v2:
2-128396912-A-ACAGCTTCTTCAG
gnomAD v3:
2-127639337-A-ACAGCTTCTTCAG
gnomAD v4:
2-127639337-A-ACAGCTTCTTCAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127639339_127639350dup , CM000664.2:g.127639339_127639350dup | GRCh38 |
| NC_000002.11:g.128396914_128396925dup , CM000664.1:g.128396914_128396925dup | GRCh37 |
| NC_000002.10:g.128113384_128113395dup | NCBI36 |
| NG_042235.1:g.47438_47449dup | |
| NG_052848.1:g.108651_108662dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355119.9:c.958_969dup MANE Select | ENSP00000347240.4:p.Leu323_Ser324insLeuLysLysLeu | |
| ENST00000324938.9:c.1030_1041dup | ENSP00000326888.5:p.Leu347_Ser348insLeuLysLysLeu | |
| ENST00000355119.8:c.958_969dup | ENSP00000347240.4:p.Leu323_Ser324insLeuLysLysLeu | |
| ENST00000409254.1:c.502_513dup | ENSP00000386907.1:p.Leu171_Ser172insLeuLysLysLeu | |
| ENST00000409286.5:c.502_513dup | ENSP00000386252.1:p.Leu171_Ser172insLeuLysLysLeu | |
| ENST00000409455.5:c.943_954dup | ENSP00000386383.1:p.Leu318_Ser319insLeuLysLysLeu | |
| ENST00000409754.5:c.502_513dup | ENSP00000386345.1:p.Leu171_Ser172insLeuLysLysLeu | |
| ENST00000409808.6:c.943_954dup | ENSP00000386637.2:p.Leu318_Ser319insLeuLysLysLeu | |
| ENST00000410011.5:c.943_954dup | ENSP00000387002.1:p.Leu318_Ser319insLeuLysLysLeu | |
| ENST00000410038.5:c.502_513dup | ENSP00000386570.1:p.Leu171_Ser172insLeuLysLysLeu | |
| ENST00000413578.5:c.*168_*179dup | ENSP00000388611.1:n.*168_*179dup | |
| ENST00000426981.5:c.441_452dup | ||
| ENST00000466410.5:n.1671_1682dup | ||
| ENST00000469300.6:n.3883_3894dup | ||
| ENST00000476932.5:n.1346_1357dup | ||
| ENST00000484252.5:n.1178_1189dup | ||
| ENST00000494613.5:n.214_225dup | ||
| ENST00000545738.6:c.1024_1035dup | ENSP00000443794.2:p.Leu345_Ser346insLeuLysLysLeu | |
| ENST00000612860.4:c.682_693dup | ENSP00000484949.1:p.Leu231_Ser232insLeuLysLysLeu | |
| NM_001136037.2:c.1024_1035dup | NP_001129509.2:p.Leu345_Ser346insLeuLysLysLeu | |
| NM_001161403.1:c.958_969dup | NP_001154875.1:p.Leu323_Ser324insLeuLysLysLeu | |
| NM_001161404.1:c.943_954dup | NP_001154876.1:p.Leu318_Ser319insLeuLysLysLeu | |
| NM_001256542.1:c.502_513dup | NP_001243471.1:p.Leu171_Ser172insLeuLysLysLeu | |
| NM_017980.4:c.1030_1041dup | NP_060450.2:p.Leu347_Ser348insLeuLysLysLeu | |
| XM_005263709.2:c.943_954dup | XP_005263766.1:p.Leu318_Ser319insLeuLysLysLeu | |
| XM_005263710.2:c.751_762dup | XP_005263767.1:p.Leu254_Ser255insLeuLysLysLeu | |
| XM_006712627.2:c.610_621dup | XP_006712690.1:p.Leu207_Ser208insLeuLysLysLeu | |
| XM_011511453.1:c.907_918dup | XP_011509755.1:p.Leu306_Ser307insLeuLysLysLeu | |
| XM_006712627.4:c.610_621dup | XP_006712690.1:p.Leu207_Ser208insLeuLysLysLeu | |
| XM_017004469.1:c.649_660dup | XP_016859958.1:p.Leu220_Ser221insLeuLysLysLeu | |
| XM_024452983.1:c.943_954dup | XP_024308751.1:p.Leu318_Ser319insLeuLysLysLeu | |
| XM_024452984.1:c.943_954dup | XP_024308752.1:p.Leu318_Ser319insLeuLysLysLeu | |
| XM_024452985.1:c.502_513dup | XP_024308753.1:p.Leu171_Ser172insLeuLysLysLeu | |
| XM_024452986.1:c.502_513dup | XP_024308754.1:p.Leu171_Ser172insLeuLysLysLeu | |
| XR_922961.2:n.1122_1133dup | ||
| NM_001136037.3:c.1024_1035dup | NP_001129509.2:p.Leu345_Ser346insLeuLysLysLeu | |
| NM_001161403.2:c.958_969dup | NP_001154875.1:p.Leu323_Ser324insLeuLysLysLeu | |
| NM_001136037.4:c.1024_1035dup | NP_001129509.2:p.Leu345_Ser346insLeuLysLysLeu | |
| NM_001161403.3:c.958_969dup MANE Select | NP_001154875.1:p.Leu323_Ser324insLeuLysLysLeu | |
| NM_001161404.2:c.943_954dup | NP_001154876.1:p.Leu318_Ser319insLeuLysLysLeu | |
| NM_001256542.2:c.502_513dup | NP_001243471.1:p.Leu171_Ser172insLeuLysLysLeu | |
| NM_017980.5:c.1030_1041dup | NP_060450.2:p.Leu347_Ser348insLeuLysLysLeu |