Linked Data
dbSNP Id:
rs1266400211
gnomAD v2:
16-56368400-G-GTGT
gnomAD v3:
16-56334488-G-GTGT
gnomAD v4:
16-56334488-G-GTGT
MyVariant Identifiers:
chr16:g.56368400_56368401insTGT (hg19)
chr16:g.56334488_56334489insTGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56334489_56334491dup , CM000678.2:g.56334489_56334491dup | GRCh38 |
| NC_000016.9:g.56368401_56368403dup , CM000678.1:g.56368401_56368403dup | GRCh37 |
| NC_000016.8:g.54925902_54925904dup | NCBI36 |
| NG_042800.1:g.148151_148153dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262494.13:c.465-240_465-238dup | ENSP00000262494.7:n.465-240_465-238dup | |
| ENST00000262493.12:c.465-240_465-238dup MANE Select | ENSP00000262493.6:n.465-240_465-238dup | |
| ENST00000262494.12:c.465-240_465-238dup | ENSP00000262494.7:n.465-240_465-238dup | |
| ENST00000562316.6:c.132-240_132-238dup | ENSP00000457238.2:n.132-240_132-238dup | |
| ENST00000638185.1:n.680-240_680-238dup | ||
| ENST00000638210.1:n.765-240_765-238dup | ||
| ENST00000638705.1:c.465-240_465-238dup | ENSP00000491223.1:n.465-240_465-238dup | |
| ENST00000638836.1:n.375-240_375-238dup | ||
| ENST00000639055.1:n.1186-240_1186-238dup | ||
| ENST00000639251.1:n.366-240_366-238dup | ||
| ENST00000639268.1:c.229-2242_229-2240dup | ||
| ENST00000639770.1:c.503-240_503-238dup | ENSP00000491999.1:n.503-240_503-238dup | |
| ENST00000640390.1:n.395-240_395-238dup | ||
| ENST00000640893.1:c.304-240_304-238dup | ENSP00000492677.1:n.304-240_304-238dup | |
| ENST00000262493.10:c.465-240_465-238dup | ENSP00000262493.6:n.465-240_465-238dup | |
| ENST00000262494.11:c.465-240_465-238dup | ENSP00000262494.7:n.465-240_465-238dup | |
| ENST00000562316.5:c.204-240_204-238dup | ENSP00000457238.1:n.204-240_204-238dup | |
| ENST00000563440.1:c.204-240_204-238dup | ENSP00000455774.1:n.204-240_204-238dup | |
| ENST00000565363.5:c.339-240_339-238dup | ENSP00000454728.1:n.339-240_339-238dup | |
| NM_020988.2:c.465-240_465-238dup | NP_066268.1:n.465-240_465-238dup | |
| NM_138736.2:c.465-240_465-238dup | NP_620073.2:n.465-240_465-238dup | |
| XM_011523003.1:c.339-240_339-238dup | XP_011521305.1:n.339-240_339-238dup | |
| XM_011523003.3:c.339-240_339-238dup | XP_011521305.1:n.339-240_339-238dup | |
| NM_020988.3:c.465-240_465-238dup MANE Select | NP_066268.1:n.465-240_465-238dup | |
| NM_138736.3:c.465-240_465-238dup | NP_620073.2:n.465-240_465-238dup |