Linked Data
ClinVar Variation Id:
2894266
ClinVar RCV Id:
RCV003725731
dbSNP Id:
rs778978500
gnomAD v2:
19-36223947-TCCCAGGGGC-T
gnomAD v3:
19-35733046-TCCCAGGGGC-T
gnomAD v4:
19-35733046-TCCCAGGGGC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35733055_35733063del , CM000681.2:g.35733055_35733063del | GRCh38 |
| NC_000019.9:g.36223956_36223964del , CM000681.1:g.36223956_36223964del | GRCh37 |
| NC_000019.8:g.40915796_40915804del | NCBI36 |
| NG_052906.1:g.20037_20045del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592092.2:n.812_820del | ||
| ENST00000673918.2:c.6440_6448del | ENSP00000501283.1:p.Ala2147_Gly2149del | |
| ENST00000674114.2:c.4047_4055del | ENSP00000501039.2:n.4047_4055del | |
| ENST00000684977.1:c.1724_1732del | ENSP00000509384.1:p.Ala575_Gly577del | |
| ENST00000689544.1:n.1659_1667del | ||
| ENST00000691421.1:c.1727_1735del | ENSP00000508674.1:p.Ala576_Gly578del | |
| ENST00000691855.1:c.6048_6056del | ||
| ENST00000692961.1:c.6506_6514del | ENSP00000509289.1:p.Ala2169_Gly2171del | |
| ENST00000693677.1:c.705-542_705-534del | ENSP00000509779.1:n.705-542_705-534del | |
| ENST00000420124.4:c.6506_6514del MANE Select | ENSP00000398837.2:p.Ala2169_Gly2171del | |
| ENST00000673918.1:c.6440_6448del | ENSP00000501283.1:p.Ala2147_Gly2149del | |
| ENST00000674114.1:c.3828_3836del | ||
| ENST00000420124.2:c.6506_6514del | ENSP00000398837.1:p.Ala2169_Gly2171del | |
| NM_014727.2:c.6506_6514del | NP_055542.1:p.Ala2169_Gly2171del | |
| XM_011527561.1:c.6440_6448del | XP_011525863.1:p.Ala2147_Gly2149del | |
| XM_011527562.1:c.6506_6514del | XP_011525864.1:p.Ala2169_Gly2171del | |
| XM_011527563.1:c.6230_6238del | XP_011525865.1:p.Ala2077_Gly2079del | |
| XM_011527561.2:c.5942_5950del | XP_011525863.2:p.Ala1981_Gly1983del | |
| XM_011527562.2:c.6506_6514del | XP_011525864.1:p.Ala2169_Gly2171del | |
| XM_017027544.1:c.6506_6514del | XP_016883033.1:p.Ala2169_Gly2171del | |
| XM_017027545.1:c.5942_5950del | XP_016883034.1:p.Ala1981_Gly1983del | |
| XM_017027546.1:c.3470_3478del | XP_016883035.1:p.Ala1157_Gly1159del | |
| NM_014727.3:c.6506_6514del MANE Select | NP_055542.1:p.Ala2169_Gly2171del |