Linked Data
dbSNP Id:
rs1436154818
MyVariant Identifiers:
chr16:g.2164447_2164448insGCCGTG (hg19)
chr16:g.2114446_2114447insGCCGTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2114455_2114460dup , CM000678.2:g.2114455_2114460dup | GRCh38 |
| NC_000016.9:g.2164456_2164461dup , CM000678.1:g.2164456_2164461dup | GRCh37 |
| NC_000016.8:g.2104457_2104462dup | NCBI36 |
| NG_008617.1:g.26447_26452dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.2571_2576dup MANE Select | ENSP00000262304.4:p.Ala859_Arg860insThrAla | |
| ENST00000262304.8:c.2571_2576dup | ENSP00000262304.4:p.Ala859_Arg860insThrAla | |
| ENST00000423118.5:c.2571_2576dup | ENSP00000399501.1:p.Ala859_Arg860insThrAla | |
| ENST00000488185.2:c.472+3037_472+3042dup | ||
| ENST00000565639.6:n.30_35dup | ||
| ENST00000568591.5:c.1502_1507dup | ENSP00000457162.1:n.1502_1507dup | |
| NM_000296.3:c.2571_2576dup | NP_000287.3:p.Ala859_Arg860insThrAla | |
| NM_001009944.2:c.2571_2576dup | NP_001009944.2:p.Ala859_Arg860insThrAla | |
| XM_011522525.1:c.2625_2630dup | XP_011520827.1:p.Ala877_Arg878insThrAla | |
| XM_011522526.1:c.2625_2630dup | XP_011520828.1:p.Ala877_Arg878insThrAla | |
| XM_011522527.1:c.2625_2630dup | XP_011520829.1:p.Ala877_Arg878insThrAla | |
| XM_011522528.1:c.2625_2630dup | XP_011520830.1:p.Ala877_Arg878insThrAla | |
| XM_011522529.1:c.2625_2630dup | XP_011520831.1:p.Ala877_Arg878insThrAla | |
| XM_011522530.1:c.2571_2576dup | XP_011520832.1:p.Ala859_Arg860insThrAla | |
| XM_011522531.1:c.2553_2558dup | XP_011520833.1:p.Ala853_Arg854insThrAla | |
| XM_011522532.1:c.2499_2504dup | XP_011520834.1:p.Ala835_Arg836insThrAla | |
| XM_011522533.1:c.2418_2423dup | XP_011520835.1:p.Ala808_Arg809insThrAla | |
| XM_011522534.1:c.2361_2366dup | XP_011520836.1:p.Ala789_Arg790insThrAla | |
| XM_011522535.1:c.447_452dup | XP_011520837.1:p.Ala151_Arg152insThrAla | |
| XM_011522536.1:c.2625_2630dup | XP_011520838.1:p.Ala877_Arg878insThrAla | |
| XR_932867.1:n.2640_2645dup | ||
| XR_932868.1:n.2640_2645dup | ||
| XR_932869.1:n.2640_2645dup | ||
| XR_932870.1:n.2640_2645dup | ||
| XM_005255370.3:c.-479_-474dup | XP_005255427.1:n.-479_-474dup | |
| XM_011522528.3:c.2625_2630dup | XP_011520830.1:p.Ala877_Arg878insThrAla | |
| XM_011522529.2:c.2625_2630dup | XP_011520831.1:p.Ala877_Arg878insThrAla | |
| XM_024450298.1:c.2571_2576dup | XP_024306066.1:p.Ala859_Arg860insThrAla | |
| XM_024450299.1:c.2499_2504dup | XP_024306067.1:p.Ala835_Arg836insThrAla | |
| XM_024450300.1:c.2361_2366dup | XP_024306068.1:p.Ala789_Arg790insThrAla | |
| XM_024450301.1:c.447_452dup | XP_024306069.1:p.Ala151_Arg152insThrAla | |
| NM_000296.4:c.2571_2576dup | NP_000287.4:p.Ala859_Arg860insThrAla | |
| NM_001009944.3:c.2571_2576dup MANE Select | NP_001009944.3:p.Ala859_Arg860insThrAla |