Linked Data
dbSNP Id:
rs769296347
gnomAD v2:
1-76205790-TAATTGGTATGTTGTTCA-T
gnomAD v4:
1-75740105-TAATTGGTATGTTGTTCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75740108_75740124del , CM000663.2:g.75740108_75740124del | GRCh38 |
| NC_000001.10:g.76205793_76205809del , CM000663.1:g.76205793_76205809del | GRCh37 |
| NC_000001.9:g.75978381_75978397del | NCBI36 |
| NG_007045.2:g.20751_20767del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.597_599+14del | ||
| ENST00000473018.3:n.2721_2723+14del | ||
| ENST00000541113.6:c.597_599+14del | ||
| ENST00000679509.1:n.1559_1561+14del | ||
| ENST00000679530.1:c.*365_*367+14del | ||
| ENST00000679615.1:n.2721_2723+14del | ||
| ENST00000679687.1:c.159_161+14del | ||
| ENST00000679704.1:c.*363_*365+14del | ||
| ENST00000679709.1:c.*560_*562+14del | ||
| ENST00000679804.1:n.336_352del | ||
| ENST00000679976.1:c.*181_*183+14del | ||
| ENST00000680166.1:n.3886_3888+14del | ||
| ENST00000680517.1:c.*94_*96+14del | ||
| ENST00000680582.1:n.1559_1561+14del | ||
| ENST00000680613.1:c.597_599+14del | ||
| ENST00000680662.1:c.*511_*513+14del | ||
| ENST00000680691.1:c.*260_*262+14del | ||
| ENST00000680694.1:c.*185_*187+14del | ||
| ENST00000680743.1:c.*264_*266+14del | ||
| ENST00000680749.1:c.597_599+14del | ||
| ENST00000680798.1:c.*181_*183+14del | ||
| ENST00000680805.1:c.597_599+14del | ||
| ENST00000680844.1:c.*381_*383+14del | ||
| ENST00000680948.1:c.*464_*466+14del | ||
| ENST00000680964.1:c.597_599+14del | ||
| ENST00000681037.1:c.597_599+14del | ||
| ENST00000681063.1:c.597_599+14del | ||
| ENST00000681209.1:c.*361_*363+14del | ||
| ENST00000681278.1:n.954_956+14del | ||
| ENST00000681289.1:n.954_956+14del | ||
| ENST00000681361.1:c.*264_*266+14del | ||
| ENST00000681430.1:c.597_599+14del | ||
| ENST00000681446.1:c.*179_*181+14del | ||
| ENST00000681450.1:c.*268_*270+14del | ||
| ENST00000681548.1:c.*183_*185+14del | ||
| ENST00000681616.1:c.*365_*367+14del | ||
| ENST00000681621.1:c.*181_*183+14del | ||
| ENST00000681680.1:n.2721_2723+14del | ||
| ENST00000681720.1:c.*55-5698_*55-5682del | ENSP00000505438.1:n.*55-5698_*55-5682del | |
| ENST00000681730.1:n.819_821+14del | ||
| ENST00000681790.1:c.339_341+14del | ||
| ENST00000681837.1:n.1213_1215+14del | ||
| ENST00000681913.1:n.2721_2723+14del | ||
| ENST00000681916.1:c.*365_*367+14del | ||
| ENST00000681930.1:n.2721_2723+14del | ||
| ENST00000370834.9:c.696_698+14del | ||
| ENST00000370841.8:c.597_599+14del | ||
| ENST00000420607.6:c.609_611+14del | ||
| ENST00000525808.5:c.*183_*185+14del | ||
| ENST00000526129.5:c.*381_*383+14del | ||
| ENST00000526196.5:c.*365_*367+14del | ||
| ENST00000526930.1:n.370_372+14del | ||
| ENST00000529059.5:n.506_508+14del | ||
| ENST00000530953.6:c.*94_*96+14del | ||
| ENST00000532509.5:c.*361_*363+14del | ||
| ENST00000534334.5:c.*181_*183+14del | ||
| ENST00000541113.5:c.489_491+14del | ||
| NM_000016.5:c.597_599+14del | ||
| NM_001127328.2:c.609_611+14del | ||
| NM_001286042.1:c.489_491+14del | ||
| NM_001286043.1:c.696_698+14del | ||
| NM_001286044.1:c.30_32+14del | ||
| NM_000016.6:c.597_599+14del | ||
| NM_001127328.3:c.609_611+14del | ||
| NM_001286042.2:c.489_491+14del | ||
| NM_001286043.2:c.696_698+14del | ||
| NM_001286044.2:c.30_32+14del |