Linked Data
dbSNP Id:
rs892379776
MyVariant Identifiers:
chr15:g.68501618_68501619insTGGAAACC (hg19)
chr15:g.68209280_68209281insTGGAAACC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68209281_68209288dup , CM000677.2:g.68209281_68209288dup | GRCh38 |
| NC_000015.9:g.68501619_68501626dup , CM000677.1:g.68501619_68501626dup | GRCh37 |
| NC_000015.8:g.66288673_66288680dup | NCBI36 |
| NG_008764.2:g.52924_52931dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.665+349_665+356dup MANE Select | ENSP00000249806.5:n.665+349_665+356dup | |
| ENST00000562767.2:c.84-11660_84-11653dup | ENSP00000456336.1:n.84-11660_84-11653dup | |
| ENST00000563917.2:n.507+349_507+356dup | ||
| ENST00000565471.6:c.206+349_206+356dup | ENSP00000457384.1:n.206+349_206+356dup | |
| ENST00000635747.1:c.*568+349_*568+356dup | ENSP00000490627.1:n.*568+349_*568+356dup | |
| ENST00000636212.1:c.*335+349_*335+356dup | ENSP00000489851.1:n.*335+349_*335+356dup | |
| ENST00000636674.1:n.1767+349_1767+356dup | ||
| ENST00000636964.1:n.2193+349_2193+356dup | ||
| ENST00000637054.1:c.198+9248_198+9255dup | ENSP00000490807.1:n.198+9248_198+9255dup | |
| ENST00000637329.1:c.634+349_634+356dup | ||
| ENST00000637450.1:c.*319+349_*319+356dup | ENSP00000490204.1:n.*319+349_*319+356dup | |
| ENST00000637494.1:c.377+349_377+356dup | ENSP00000490057.1:n.377+349_377+356dup | |
| ENST00000637667.1:c.566+349_566+356dup | ENSP00000489843.1:n.566+349_566+356dup | |
| ENST00000637823.1:c.490+349_490+356dup | ||
| ENST00000637888.1:c.198+9248_198+9255dup | ENSP00000490546.1:n.198+9248_198+9255dup | |
| ENST00000638076.1:c.*268+349_*268+356dup | ENSP00000490373.1:n.*268+349_*268+356dup | |
| ENST00000638144.1:n.308+349_308+356dup | ||
| ENST00000646164.1:c.38+9248_38+9255dup | ||
| ENST00000249806.9:c.665+349_665+356dup | ENSP00000249806.5:n.665+349_665+356dup | |
| ENST00000538696.5:c.761+349_761+356dup | ENSP00000445770.1:n.761+349_761+356dup | |
| ENST00000562767.1:c.84-11660_84-11653dup | ENSP00000456336.1:n.84-11660_84-11653dup | |
| ENST00000564752.1:c.*49+349_*49+356dup | ENSP00000457822.1:n.*49+349_*49+356dup | |
| ENST00000565471.5:c.206+349_206+356dup | ENSP00000457384.1:n.206+349_206+356dup | |
| ENST00000566347.5:c.476+349_476+356dup | ENSP00000457783.1:n.476+349_476+356dup | |
| ENST00000567060.5:c.*63+349_*63+356dup | ENSP00000454818.1:n.*63+349_*63+356dup | |
| NM_017882.2:c.665+349_665+356dup | NP_060352.1:n.665+349_665+356dup | |
| XR_931861.1:n.887+349_887+356dup | ||
| NM_017882.3:c.665+349_665+356dup MANE Select | NP_060352.1:n.665+349_665+356dup |