Linked Data
ClinVar Variation Id:
838841
ClinVar RCV Id:
RCV001040472
dbSNP Id:
rs1828134241
gnomAD v4:
8-144516024-CCGCACGTAGTGTTTCTGCTTCATGTTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144516025_144516051del , CM000670.2:g.144516025_144516051del | GRCh38 |
| NC_000008.10:g.145741409_145741435del , CM000670.1:g.145741409_145741435del | GRCh37 |
| NC_000008.9:g.145712217_145712243del | NCBI36 |
| NG_016430.1:g.6776_6802del | |
| NG_033083.1:g.3061_3087del | |
| NG_016430.2:g.6776_6802del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617875.6:c.1068_1094del MANE Select | ENSP00000482313.2:p.Asn357_Arg365del | |
| ENST00000524998.1:c.590_616del | ||
| ENST00000617875.4:c.1068_1094del | ENSP00000482313.1:p.Asn357_Arg365del | |
| ENST00000621189.4:c.-4_23del | ||
| NM_004260.3:c.1068_1094del | NP_004251.3:p.Asn357_Arg365del | |
| XM_011517380.1:c.1068_1094del | XP_011515682.1:p.Asn357_Arg365del | |
| XM_011517381.1:c.972_998del | XP_011515683.1:p.Asn325_Arg333del | |
| XM_011517382.1:c.1068_1094del | XP_011515684.1:p.Asn357_Arg365del | |
| XM_011517383.1:c.1068_1094del | XP_011515685.1:p.Asn357_Arg365del | |
| XM_011517384.1:c.1068_1094del | XP_011515686.1:p.Asn357_Arg365del | |
| XM_011517385.1:c.-66_-40del | XP_011515687.1:n.-66_-40del | |
| XR_928366.1:n.1109_1135del | ||
| XR_928367.1:n.1109_1135del | ||
| XR_928368.1:n.1111_1137del | ||
| XM_011517384.3:c.1068_1094del | XP_011515686.1:p.Asn357_Arg365del | |
| XM_017013991.2:c.1068_1094del | XP_016869480.1:p.Asn357_Arg365del | |
| XM_017013992.2:c.1068_1094del | XP_016869481.1:p.Asn357_Arg365del | |
| XM_017013993.2:c.1068_1094del | XP_016869482.1:p.Asn357_Arg365del | |
| XM_017013994.2:c.972_998del | XP_016869483.1:p.Asn325_Arg333del | |
| XM_017013995.2:c.1068_1094del | XP_016869484.1:p.Asn357_Arg365del | |
| XM_017013996.2:c.1068_1094del | XP_016869485.1:p.Asn357_Arg365del | |
| XM_017013997.2:c.1068_1094del | XP_016869486.1:p.Asn357_Arg365del | |
| XM_017013998.1:c.1068_1094del | XP_016869487.1:p.Asn357_Arg365del | |
| XM_017013999.2:c.1068_1094del | XP_016869488.1:p.Asn357_Arg365del | |
| XM_017014000.1:c.-66_-40del | XP_016869489.1:n.-66_-40del | |
| XM_017014001.2:c.-66_-40del | XP_016869490.1:n.-66_-40del | |
| XR_001745626.2:n.1105_1131del | ||
| XR_001745627.2:n.1105_1131del | ||
| XR_001745628.2:n.1105_1131del | ||
| XR_001745629.2:n.1105_1131del | ||
| XR_001745630.2:n.1105_1131del | ||
| NM_004260.4:c.1068_1094del MANE Select | NP_004251.4:p.Asn357_Arg365del |