Linked Data
dbSNP Id:
rs1447463668
MyVariant Identifiers:
chr19:g.45855706_45855707insAAC (hg19)
chr19:g.45352448_45352449insAAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352450_45352452dup , CM000681.2:g.45352450_45352452dup | GRCh38 |
| NC_000019.9:g.45855708_45855710dup , CM000681.1:g.45855708_45855710dup | GRCh37 |
| NC_000019.8:g.50547548_50547550dup | NCBI36 |
| NG_007067.2:g.23137_23139dup , LRG_461:g.23137_23139dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000391944.8:c.2046+55_2046+57dup | ENSP00000375808.4:n.2046+55_2046+57dup | |
| ENST00000682414.1:c.2046+55_2046+57dup | ENSP00000507019.1:n.2046+55_2046+57dup | |
| ENST00000682508.1:n.2075+55_2075+57dup | ||
| ENST00000684218.1:c.*1304+55_*1304+57dup | ENSP00000507804.1:n.*1304+55_*1304+57dup | |
| ENST00000684264.1:n.1602+55_1602+57dup | ||
| ENST00000684407.1:c.1923+55_1923+57dup | ENSP00000507775.1:n.1923+55_1923+57dup | |
| ENST00000684458.1:c.*532+55_*532+57dup | ENSP00000508260.1:n.*532+55_*532+57dup | |
| ENST00000684468.1:n.1758+55_1758+57dup | ||
| ENST00000391945.10:c.2046+55_2046+57dup MANE Select | ENSP00000375809.4:n.2046+55_2046+57dup | |
| ENST00000646507.1:n.2143+55_2143+57dup | ||
| ENST00000391941.6:c.1974+55_1974+57dup | ENSP00000375805.2:n.1974+55_1974+57dup | |
| ENST00000391942.6:n.1217+55_1217+57dup | ||
| ENST00000391944.7:c.1812+55_1812+57dup | ENSP00000375808.3:n.1812+55_1812+57dup | |
| ENST00000391945.8:c.2046+55_2046+57dup | ENSP00000375809.3:n.2046+55_2046+57dup | |
| ENST00000588652.5:n.2134+55_2134+57dup | ||
| NM_000400.3:c.2046+55_2046+57dup , LRG_461t1:c.2046+55_2046+57dup | NP_000391.1:n.2046+55_2046+57dup | |
| XM_011526611.1:c.1968+55_1968+57dup | XP_011524913.1:n.1968+55_1968+57dup | |
| XM_011526611.2:c.1968+55_1968+57dup | XP_011524913.1:n.1968+55_1968+57dup | |
| XM_017026467.1:c.1923+55_1923+57dup | XP_016881956.1:n.1923+55_1923+57dup | |
| XR_001753633.2:n.2093+55_2093+57dup | ||
| XR_001753634.2:n.2029+55_2029+57dup | ||
| NM_000400.4:c.2046+55_2046+57dup MANE Select | NP_000391.1:n.2046+55_2046+57dup |