Linked Data
dbSNP Id:
rs1337013014
gnomAD v2:
1-11848380-T-TGGCATGGCAGC
gnomAD v3:
1-11788323-T-TGGCATGGCAGC
gnomAD v4:
1-11788323-T-TGGCATGGCAGC
MyVariant Identifiers:
chr1:g.11848380_11848381insGGCATGGCAGC (hg19)
chr1:g.11788323_11788324insGGCATGGCAGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11788324_11788334dup , CM000663.2:g.11788324_11788334dup | GRCh38 |
| NC_000001.10:g.11848381_11848391dup , CM000663.1:g.11848381_11848391dup | GRCh37 |
| NC_000001.9:g.11770968_11770978dup | NCBI36 |
| NG_013351.1:g.22770_22780dup , LRG_726:g.22770_22780dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433342.6:c.3523_3533dup (C1orf167) | ENSP00000414909.3:p.Leu1179AlafsTer? | |
| ENST00000688073.1:c.4024_4034dup (C1orf167) MANE Select | ENSP00000510540.1:p.Leu1346AlafsTer? | |
| ENST00000376585.6:c.*2346_*2356dup (MTHFR) | ENSP00000365770.1:n.*2346_*2356dup | |
| ENST00000376590.9:c.*2346_*2356dup (MTHFR) MANE Select | ENSP00000365775.3:n.*2346_*2356dup | |
| ENST00000376592.6:c.*2346_*2356dup (MTHFR) | ENSP00000365777.1:n.*2346_*2356dup | |
| ENST00000312793.9:c.2159_2169dup (C1orf167) | ||
| ENST00000376583.7:c.4440_4450dup (MTHFR) | ENSP00000365767.3:n.4440_4450dup | |
| ENST00000376585.5:c.*2346_*2356dup (MTHFR) | ENSP00000365770.1:n.*2346_*2356dup | |
| ENST00000376590.7:c.*2346_*2356dup (MTHFR) | ENSP00000365775.3:n.*2346_*2356dup | |
| ENST00000376592.5:c.*2346_*2356dup (MTHFR) | ENSP00000365777.1:n.*2346_*2356dup | |
| ENST00000433342.5:c.4081_4091dup (C1orf167) | ENSP00000414909.2:p.Leu1365AlafsTer? | |
| ENST00000444493.5:c.1523_1533dup (C1orf167) | ||
| ENST00000449278.1:c.1259_1269dup (C1orf167) | ||
| ENST00000482358.1:n.318_328dup (C1orf167) | ||
| NM_001010881.1:c.4024_4034dup (C1orf167) | NP_001010881.1:p.Leu1346AlafsTer? | |
| NM_005957.4:c.*2346_*2356dup , LRG_726t1:c.*2346_*2356dup (MTHFR) | NP_005948.3:n.*2346_*2356dup | |
| XM_006711078.2:c.4024_4034dup (C1orf167) | XP_006711141.1:p.Leu1346AlafsTer? | |
| XM_011541267.1:c.4159_4169dup (C1orf167) | XP_011539569.1:p.Leu1391AlafsTer? | |
| XM_011541268.1:c.4159_4169dup (C1orf167) | XP_011539570.1:p.Leu1391AlafsTer? | |
| XM_011541269.1:c.4159_4169dup (C1orf167) | XP_011539571.1:p.Leu1391AlafsTer? | |
| XM_011541270.1:c.4159_4169dup (C1orf167) | XP_011539572.1:p.Leu1391AlafsTer? | |
| XM_011541271.1:c.4105_4115dup (C1orf167) | XP_011539573.1:p.Leu1373AlafsTer? | |
| XM_011541272.1:c.4159_4169dup (C1orf167) | XP_011539574.1:p.Leu1391AlafsTer? | |
| XM_011541273.1:c.4024_4034dup (C1orf167) | XP_011539575.1:p.Leu1346AlafsTer? | |
| XM_011541274.1:c.4024_4034dup (C1orf167) | XP_011539576.1:p.Leu1346AlafsTer? | |
| XM_011541275.1:c.4024_4034dup (C1orf167) | XP_011539577.1:p.Leu1346AlafsTer? | |
| XM_011541276.1:c.4065_4075dup (C1orf167) | XP_011539578.1:p.His1359ArgfsTer25 | |
| XM_011541277.1:c.4065_4075dup (C1orf167) | XP_011539579.1:p.His1359ArgfsTer? | |
| XM_011541278.1:c.4159_4169dup (C1orf167) | XP_011539580.1:p.Leu1391AlafsTer? | |
| XM_011541279.1:c.3751_3761dup (C1orf167) | XP_011539581.1:p.Leu1255AlafsTer? | |
| XM_011541280.1:c.2440_2450dup (C1orf167) | XP_011539582.1:p.Leu818AlafsTer? | |
| XM_011541281.1:c.2440_2450dup (C1orf167) | XP_011539583.1:p.Leu818AlafsTer? | |
| NM_001330358.1:c.*2346_*2356dup (MTHFR) | NP_001317287.1:n.*2346_*2356dup | |
| XM_011541272.3:c.4159_4169dup (C1orf167) | XP_011539574.1:p.Leu1391AlafsTer? | |
| XM_011541276.3:c.4065_4075dup (C1orf167) | XP_011539578.1:p.His1359ArgfsTer25 | |
| XM_011541277.3:c.4065_4075dup (C1orf167) | XP_011539579.1:p.His1359ArgfsTer? | |
| XM_011541278.2:c.4159_4169dup (C1orf167) | XP_011539580.1:p.Leu1391AlafsTer? | |
| XM_024446506.1:c.4159_4169dup (C1orf167) | XP_024302274.1:p.Leu1391AlafsTer? | |
| XM_024446507.1:c.4159_4169dup (C1orf167) | XP_024302275.1:p.Leu1391AlafsTer? | |
| XM_024446508.1:c.4159_4169dup (C1orf167) | XP_024302276.1:p.Leu1391AlafsTer? | |
| XM_024446509.1:c.4159_4169dup (C1orf167) | XP_024302277.1:p.Leu1391AlafsTer? | |
| XM_024446512.1:c.4105_4115dup (C1orf167) | XP_024302280.1:p.Leu1373AlafsTer? | |
| XM_024446514.1:c.4024_4034dup (C1orf167) | XP_024302282.1:p.Leu1346AlafsTer? | |
| XM_024446515.1:c.4024_4034dup (C1orf167) | XP_024302283.1:p.Leu1346AlafsTer? | |
| XM_024446517.1:c.4024_4034dup (C1orf167) | XP_024302285.1:p.Leu1346AlafsTer? | |
| XM_024446518.1:c.2440_2450dup (C1orf167) | XP_024302286.1:p.Leu818AlafsTer? | |
| NM_001010881.2:c.4024_4034dup (C1orf167) MANE Select | NP_001010881.1:p.Leu1346AlafsTer? | |
| NM_005957.5:c.*2346_*2356dup (MTHFR) MANE Select | NP_005948.3:n.*2346_*2356dup | |
| NM_001330358.2:c.*2346_*2356dup (MTHFR) | NP_001317287.1:n.*2346_*2356dup |