Canonical Allele Identifier: CA569698052

Gene: RWDD1

Linked Data

• gnomAD v2: 6-116914134-C-CTTTTTTTTTTTT
• MyVariant Identifiers: chr6:g.116914134_116914135insTTTTTTTTTTTT (hg19) ; chr6:g.116592971_116592972insTTTTTTTTTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116592975_116592976insTTTTTTTTTTTT , CM000668.2:g.116592975_116592976insTTTTTTTTTTTT	GRCh38
NC_000006.11:g.116914138_116914139insTTTTTTTTTTTT , CM000668.1:g.116914138_116914139insTTTTTTTTTTTT	GRCh37
NC_000006.10:g.117020831_117020832insTTTTTTTTTTTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466444.7:c.611-5_611-4insTTTTTTTTTTTT MANE Select	ENSP00000420357.2:n.611-5_611-4insTTTTTTTTTTTT
ENST00000466444.6:c.611-5_611-4insTTTTTTTTTTTT	ENSP00000420357.2:n.611-5_611-4insTTTTTTTTTTTT
ENST00000487832.6:c.323-5_323-4insTTTTTTTTTTTT	ENSP00000428778.1:n.323-5_323-4insTTTTTTTTTTTT
NM_001007464.2:c.323-5_323-4insTTTTTTTTTTTT	NP_001007465.1:n.323-5_323-4insTTTTTTTTTTTT
NM_015952.3:c.611-5_611-4insTTTTTTTTTTTT	NP_057036.2:n.611-5_611-4insTTTTTTTTTTTT
NM_016104.3:c.323-5_323-4insTTTTTTTTTTTT	NP_057188.2:n.323-5_323-4insTTTTTTTTTTTT
NM_015952.4:c.611-5_611-4insTTTTTTTTTTTT MANE Select	NP_057036.2:n.611-5_611-4insTTTTTTTTTTTT
NM_001007464.3:c.323-5_323-4insTTTTTTTTTTTT	NP_001007465.1:n.323-5_323-4insTTTTTTTTTTTT
NM_016104.4:c.323-5_323-4insTTTTTTTTTTTT	NP_057188.2:n.323-5_323-4insTTTTTTTTTTTT