Linked Data
dbSNP Id:
rs1453372242
gnomAD v4:
19-45352436-G-GAAAT
MyVariant Identifiers:
chr19:g.45855694_45855695insAAAT (hg19)
chr19:g.45352436_45352437insAAAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352437_45352440dup , CM000681.2:g.45352437_45352440dup | GRCh38 |
| NC_000019.9:g.45855695_45855698dup , CM000681.1:g.45855695_45855698dup | GRCh37 |
| NC_000019.8:g.50547535_50547538dup | NCBI36 |
| NG_007067.2:g.23148_23151dup , LRG_461:g.23148_23151dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000391944.8:c.2046+66_2046+69dup | ENSP00000375808.4:n.2046+66_2046+69dup | |
| ENST00000682414.1:c.2046+66_2046+69dup | ENSP00000507019.1:n.2046+66_2046+69dup | |
| ENST00000682508.1:n.2075+66_2075+69dup | ||
| ENST00000684218.1:c.*1304+66_*1304+69dup | ENSP00000507804.1:n.*1304+66_*1304+69dup | |
| ENST00000684264.1:n.1602+66_1602+69dup | ||
| ENST00000684407.1:c.1923+66_1923+69dup | ENSP00000507775.1:n.1923+66_1923+69dup | |
| ENST00000684458.1:c.*532+66_*532+69dup | ENSP00000508260.1:n.*532+66_*532+69dup | |
| ENST00000684468.1:n.1758+66_1758+69dup | ||
| ENST00000391945.10:c.2046+66_2046+69dup MANE Select | ENSP00000375809.4:n.2046+66_2046+69dup | |
| ENST00000646507.1:n.2143+66_2143+69dup | ||
| ENST00000391941.6:c.1974+66_1974+69dup | ENSP00000375805.2:n.1974+66_1974+69dup | |
| ENST00000391942.6:n.1217+66_1217+69dup | ||
| ENST00000391944.7:c.1812+66_1812+69dup | ENSP00000375808.3:n.1812+66_1812+69dup | |
| ENST00000391945.8:c.2046+66_2046+69dup | ENSP00000375809.3:n.2046+66_2046+69dup | |
| ENST00000588652.5:n.2134+66_2134+69dup | ||
| NM_000400.3:c.2046+66_2046+69dup , LRG_461t1:c.2046+66_2046+69dup | NP_000391.1:n.2046+66_2046+69dup | |
| XM_011526611.1:c.1968+66_1968+69dup | XP_011524913.1:n.1968+66_1968+69dup | |
| XM_011526611.2:c.1968+66_1968+69dup | XP_011524913.1:n.1968+66_1968+69dup | |
| XM_017026467.1:c.1923+66_1923+69dup | XP_016881956.1:n.1923+66_1923+69dup | |
| XR_001753633.2:n.2093+66_2093+69dup | ||
| XR_001753634.2:n.2029+66_2029+69dup | ||
| NM_000400.4:c.2046+66_2046+69dup MANE Select | NP_000391.1:n.2046+66_2046+69dup |