Linked Data
ClinVar Variation Id:
2753002
ClinVar RCV Id:
RCV003536770
dbSNP Id:
rs1220968996
gnomAD v2:
14-50094838-CTCAT-C
gnomAD v4:
14-49628120-CTCAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49628122_49628125del , CM000676.2:g.49628122_49628125del | GRCh38 |
| NC_000014.8:g.50094840_50094843del , CM000676.1:g.50094840_50094843del | GRCh37 |
| NC_000014.7:g.49164590_49164593del | NCBI36 |
| NG_013070.1:g.12107_12110del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298292.13:c.1895_1898del MANE Select | ENSP00000298292.8:p.Asn632SerfsTer7 | |
| ENST00000298292.12:c.1895_1898del | ENSP00000298292.8:p.Asn632SerfsTer7 | |
| ENST00000406043.3:c.1864-2076_1864-2073del | ENSP00000384862.3:n.1864-2076_1864-2073del | |
| NM_001083908.1:c.1864-2076_1864-2073del | NP_001077377.1:n.1864-2076_1864-2073del | |
| NM_018139.2:c.1895_1898del | NP_060609.2:p.Asn632SerfsTer7 | |
| NM_001083908.2:c.1864-2076_1864-2073del | NP_001077377.1:n.1864-2076_1864-2073del | |
| NM_001378453.1:c.-204-2076_-204-2073del | NP_001365382.1:n.-204-2076_-204-2073del | |
| NM_018139.3:c.1895_1898del MANE Select | NP_060609.2:p.Asn632SerfsTer7 |