Linked Data
dbSNP Id:
rs387906360
ExAC:
7:117180302 A / ATC
gnomAD v2:
7-117180302-A-ATC
gnomAD v3:
7-117540248-A-ATC
gnomAD v4:
7-117540248-A-ATC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117540251_117540252dup , CM000669.2:g.117540251_117540252dup | GRCh38 |
| NC_000007.13:g.117180305_117180306dup , CM000669.1:g.117180305_117180306dup | GRCh37 |
| NC_000007.12:g.116967541_116967542dup | NCBI36 |
| NG_016465.4:g.79468_79469dup , LRG_663:g.79468_79469dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.1021_1022dup | ENSP00000497673.2:p.Phe342HisfsTer28 | |
| ENST00000647978.2:c.*918_*919dup | ENSP00000497658.1:n.*918_*919dup | |
| ENST00000649781.2:c.1021_1022dup | ENSP00000497203.1:p.Phe342HisfsTer28 | |
| ENST00000685018.2:c.1021_1022dup | ENSP00000510194.2:p.Phe342HisfsTer28 | |
| ENST00000687278.2:c.1021_1022dup | ENSP00000509593.2:p.Phe342HisfsTer28 | |
| ENST00000699585.1:c.1021_1022dup | ENSP00000514456.1:p.Phe342HisfsTer28 | |
| ENST00000699596.1:c.1021_1022dup | ENSP00000514465.1:p.Phe342HisfsTer28 | |
| ENST00000699597.1:c.1021_1022dup | ENSP00000514466.1:p.Phe342HisfsTer28 | |
| ENST00000699598.1:c.1021_1022dup | ENSP00000514467.1:p.Phe342HisfsTer28 | |
| ENST00000699599.1:c.1021_1022dup | ENSP00000514468.1:p.Phe342HisfsTer28 | |
| ENST00000699600.1:c.1021_1022dup | ENSP00000514469.1:p.Phe342HisfsTer28 | |
| ENST00000699601.1:c.1021_1022dup | ENSP00000514470.1:p.Phe342HisfsTer28 | |
| ENST00000699602.1:c.1021_1022dup | ENSP00000514471.1:p.Phe342HisfsTer28 | |
| ENST00000699604.1:c.*845_*846dup | ENSP00000514472.1:n.*845_*846dup | |
| ENST00000699605.1:c.778_779dup | ENSP00000514473.1:p.Phe261HisfsTer28 | |
| ENST00000003084.11:c.1021_1022dup MANE Select | ENSP00000003084.6:p.Phe342HisfsTer28 | |
| ENST00000647978.1:c.*918_*919dup | ENSP00000497658.1:n.*918_*919dup | |
| ENST00000648260.1:c.1021_1022dup | ENSP00000497957.1:p.Phe342HisfsTer28 | |
| ENST00000649406.1:c.1021_1022dup | ENSP00000497965.1:p.Phe342HisfsTer28 | |
| ENST00000649781.1:c.1021_1022dup | ENSP00000497203.1:p.Phe342HisfsTer28 | |
| ENST00000673785.1:c.778_779dup | ENSP00000501235.1:p.Phe261HisfsTer28 | |
| ENST00000003084.10:c.1021_1022dup | ENSP00000003084.6:p.Phe342HisfsTer28 | |
| ENST00000426809.5:c.931_932dup | ENSP00000389119.1:p.Phe312HisfsTer28 | |
| NM_000492.3:c.1021_1022dup , LRG_663t1:c.1021_1022dup | NP_000483.3:p.Phe342HisfsTer28 | |
| XM_011515751.1:c.1111_1112dup | XP_011514053.1:p.Phe372HisfsTer28 | |
| XM_011515752.1:c.1111_1112dup | XP_011514054.1:p.Phe372HisfsTer28 | |
| XM_011515753.1:c.778_779dup | XP_011514055.1:p.Phe261HisfsTer28 | |
| XM_011515754.1:c.778_779dup | XP_011514056.1:p.Phe261HisfsTer28 | |
| NM_000492.4:c.1021_1022dup MANE Select | NP_000483.3:p.Phe342HisfsTer28 |