Linked Data
ClinVar Variation Id:
863090
ClinVar RCV Id:
RCV003763802
dbSNP Id:
rs1562352647
gnomAD v4:
6-32843094-TAAGAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32843097_32843101del , CM000668.2:g.32843097_32843101del | GRCh38 |
| NC_000006.11:g.32810874_32810878del , CM000668.1:g.32810874_32810878del | GRCh37 |
| NC_000006.10:g.32918852_32918856del | NCBI36 |
| NG_009793.3:g.672_676del | |
| NG_028165.1:g.6837_6841del | |
| NG_009793.4:g.672_676del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650793.2:n.169-10_169-6del | ||
| ENST00000697612.1:n.837_841del | ||
| ENST00000374881.3:c.136-10_136-6del | ENSP00000364015.2:n.136-10_136-6del | |
| ENST00000374882.8:c.148-10_148-6del MANE Select | ENSP00000364016.4:n.148-10_148-6del | |
| ENST00000650411.1:n.1459_1463del | ||
| ENST00000650793.1:n.169-10_169-6del | ||
| ENST00000374881.2:c.136-10_136-6del | ENSP00000364015.2:n.136-10_136-6del | |
| ENST00000374882.7:c.148-10_148-6del | ENSP00000364016.3:n.148-10_148-6del | |
| ENST00000395339.7:c.148-10_148-6del | ENSP00000378748.3:n.148-10_148-6del | |
| ENST00000484003.1:n.374-10_374-6del | ||
| NM_004159.4:c.136-10_136-6del | NP_004150.1:n.136-10_136-6del | |
| NM_148919.3:c.148-10_148-6del | NP_683720.2:n.148-10_148-6del | |
| NM_148919.4:c.148-10_148-6del MANE Select | NP_683720.2:n.148-10_148-6del | |
| NM_004159.5:c.136-10_136-6del | NP_004150.1:n.136-10_136-6del |