Linked Data
ClinVar Variation Id:
1278849
ClinVar RCV Id:
RCV001688457
dbSNP Id:
rs17880610
ExAC:
6:53363809 GT / G
gnomAD v2:
6-53363809-GT-G
gnomAD v3:
6-53499011-GT-G
gnomAD v4:
6-53499011-GT-G
COSMIC:
COSN20057583
MyVariant Identifiers:
chr6:g.53363810del (hg19)
chr6:g.53499013del (hg38)
chr6:g.53499012del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.53499021del , CM000668.2:g.53499021del | GRCh38 |
| NC_000006.11:g.53363819del , CM000668.1:g.53363819del | GRCh37 |
| NC_000006.10:g.53471778del | NCBI36 |
| NG_012071.1:g.51022del | |
| NG_012071.2:g.51118del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513939.6:c.1589-45del (GCLC) | ENSP00000424211.2:n.1589-45del | |
| ENST00000616923.5:c.1544-45del (GCLC) | ENSP00000482756.2:n.1544-45del | |
| ENST00000643939.1:c.1709-45del (GCLC) | ENSP00000495686.1:n.1709-45del | |
| ENST00000650454.1:c.1703-45del (GCLC) MANE Select | ENSP00000497574.1:n.1703-45del | |
| ENST00000229416.10:c.1703-45del (GCLC) | ENSP00000229416.6:n.1703-45del | |
| ENST00000509541.5:n.2148-45del (GCLC) | ||
| ENST00000510837.5:n.581-45del (GCLC) | ||
| ENST00000515580.1:n.1307-45del (GCLC) | ||
| ENST00000616923.4:c.1589-45del (GCLC) | ENSP00000482756.1:n.1589-45del | |
| NM_001197115.1:c.1589-45del (GCLC) | NP_001184044.1:n.1589-45del | |
| NM_001498.3:c.1703-45del (GCLC) | NP_001489.1:n.1703-45del | |
| XR_926888.1:n.87-7133del (GCLC-AS1) | ||
| XR_926889.1:n.55+5385del (GCLC-AS1) | ||
| NM_001498.4:c.1703-45del (GCLC) MANE Select | NP_001489.1:n.1703-45del | |
| XM_017010749.1:c.992-45del (GCLC) | XP_016866238.1:n.992-45del | |
| NM_001197115.2:c.1589-45del (GCLC) | NP_001184044.1:n.1589-45del |