Canonical Allele Identifier: CA569697993

Gene: RWDD1

Linked Data

• dbSNP Id: rs1382221763
• gnomAD v2: 6-116914126-TTG-T
• gnomAD v4: 6-116592963-TTG-T
• MyVariant Identifiers: chr6:g.116914127_116914128del (hg19) ; chr6:g.116592964_116592965del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116592964_116592965del , CM000668.2:g.116592964_116592965del	GRCh38
NC_000006.11:g.116914127_116914128del , CM000668.1:g.116914127_116914128del	GRCh37
NC_000006.10:g.117020820_117020821del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466444.7:c.611-16_611-15del MANE Select	ENSP00000420357.2:n.611-16_611-15del
ENST00000466444.6:c.611-16_611-15del	ENSP00000420357.2:n.611-16_611-15del
ENST00000487832.6:c.323-16_323-15del	ENSP00000428778.1:n.323-16_323-15del
NM_001007464.2:c.323-16_323-15del	NP_001007465.1:n.323-16_323-15del
NM_015952.3:c.611-16_611-15del	NP_057036.2:n.611-16_611-15del
NM_016104.3:c.323-16_323-15del	NP_057188.2:n.323-16_323-15del
NM_015952.4:c.611-16_611-15del MANE Select	NP_057036.2:n.611-16_611-15del
NM_001007464.3:c.323-16_323-15del	NP_001007465.1:n.323-16_323-15del
NM_016104.4:c.323-16_323-15del	NP_057188.2:n.323-16_323-15del