Canonical Allele Identifier: CA569697984

Gene: RWDD1

Linked Data

• dbSNP Id: rs1397847982
• gnomAD v2: 6-116914116-T-TC
• gnomAD v4: 6-116592953-T-TC
• MyVariant Identifiers: chr6:g.116914116_116914117insC (hg19) ; chr6:g.116592953_116592954insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116592953_116592954insC , CM000668.2:g.116592953_116592954insC	GRCh38
NC_000006.11:g.116914116_116914117insC , CM000668.1:g.116914116_116914117insC	GRCh37
NC_000006.10:g.117020809_117020810insC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466444.7:c.611-27_611-26insC MANE Select	ENSP00000420357.2:n.611-27_611-26insC
ENST00000466444.6:c.611-27_611-26insC	ENSP00000420357.2:n.611-27_611-26insC
ENST00000487832.6:c.323-27_323-26insC	ENSP00000428778.1:n.323-27_323-26insC
NM_001007464.2:c.323-27_323-26insC	NP_001007465.1:n.323-27_323-26insC
NM_015952.3:c.611-27_611-26insC	NP_057036.2:n.611-27_611-26insC
NM_016104.3:c.323-27_323-26insC	NP_057188.2:n.323-27_323-26insC
NM_015952.4:c.611-27_611-26insC MANE Select	NP_057036.2:n.611-27_611-26insC
NM_001007464.3:c.323-27_323-26insC	NP_001007465.1:n.323-27_323-26insC
NM_016104.4:c.323-27_323-26insC	NP_057188.2:n.323-27_323-26insC