Linked Data
dbSNP Id:
rs1328168605
gnomAD v2:
5-149636229-G-GT
gnomAD v3:
5-150256666-G-GT
gnomAD v4:
5-150256666-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150256666_150256667insT , CM000667.2:g.150256666_150256667insT | GRCh38 |
| NC_000005.9:g.149636229_149636230insT , CM000667.1:g.149636229_149636230insT | GRCh37 |
| NC_000005.8:g.149616422_149616423insT | NCBI36 |
| NG_047040.1:g.38174_38175insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348628.11:c.339-22_339-21insA | ENSP00000261793.8:n.339-22_339-21insA | |
| ENST00000515758.2:n.503-22_503-21insA | ||
| ENST00000672404.2:n.503-22_503-21insA | ||
| ENST00000682786.1:c.339-22_339-21insA | ENSP00000507199.1:n.339-22_339-21insA | |
| ENST00000683115.1:n.503-22_503-21insA | ||
| ENST00000683332.1:c.279-22_279-21insA | ENSP00000507006.1:n.279-22_279-21insA | |
| ENST00000683506.1:c.339-22_339-21insA | ENSP00000508302.1:n.339-22_339-21insA | |
| ENST00000684093.1:n.497-22_497-21insA | ||
| ENST00000684465.1:n.439-22_439-21insA | ||
| ENST00000398376.8:c.339-22_339-21insA | ENSP00000381412.4:n.339-22_339-21insA | |
| ENST00000510347.2:c.339-22_339-21insA | ENSP00000426607.2:n.339-22_339-21insA | |
| ENST00000671881.1:c.339-22_339-21insA MANE Select | ENSP00000500386.1:n.339-22_339-21insA | |
| ENST00000672089.1:c.339-22_339-21insA | ENSP00000500700.1:n.339-22_339-21insA | |
| ENST00000672396.1:c.339-22_339-21insA | ENSP00000499987.1:n.339-22_339-21insA | |
| ENST00000672404.1:c.184-22_184-21insA | ||
| ENST00000672479.1:c.339-22_339-21insA | ENSP00000500642.1:n.339-22_339-21insA | |
| ENST00000672752.1:c.339-22_339-21insA | ENSP00000499939.1:n.339-22_339-21insA | |
| ENST00000672785.1:c.339-22_339-21insA | ENSP00000500496.1:n.339-22_339-21insA | |
| ENST00000672829.1:c.339-22_339-21insA | ENSP00000500613.1:n.339-22_339-21insA | |
| ENST00000348628.10:c.339-22_339-21insA | ENSP00000261793.8:n.339-22_339-21insA | |
| ENST00000398376.7:c.339-22_339-21insA | ENSP00000381412.3:n.339-22_339-21insA | |
| ENST00000508662.5:n.427-22_427-21insA | ||
| ENST00000515758.1:c.-46-22_-46-21insA | ENSP00000427580.1:n.-46-22_-46-21insA | |
| NM_015981.3:c.339-22_339-21insA | NP_057065.2:n.339-22_339-21insA | |
| NM_171825.2:c.339-22_339-21insA | NP_741960.1:n.339-22_339-21insA | |
| NM_001363989.1:c.339-22_339-21insA | NP_001350918.1:n.339-22_339-21insA | |
| NM_001363990.1:c.339-22_339-21insA | NP_001350919.1:n.339-22_339-21insA | |
| XM_017009898.2:c.339-22_339-21insA | XP_016865387.1:n.339-22_339-21insA | |
| NM_001369025.2:c.339-22_339-21insA | NP_001355954.1:n.339-22_339-21insA | |
| NM_015981.4:c.339-22_339-21insA MANE Select | NP_057065.2:n.339-22_339-21insA | |
| NM_171825.3:c.339-22_339-21insA | NP_741960.1:n.339-22_339-21insA |