Canonical Allele Identifier: CA3970645
Gene: RWDD1 HGNC NCBI

Linked Data

dbSNP Id: rs2243350
ExAC: 6:116914112 A / ATT
gnomAD v2: 6-116914112-A-ATT
gnomAD v3: 6-116592949-A-ATT
gnomAD v4: 6-116592949-A-ATT
MyVariant Identifiers: chr6:g.116914115_116914116insTT (hg19) chr6:g.116914114_116914115insTT (hg19) chr6:g.116914112_116914113insTT (hg19) chr6:g.116592952_116592953insTT (hg38) chr6:g.116592949_116592950insTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.116592963_116592964dup , CM000668.2:g.116592963_116592964dup GRCh38
NC_000006.11:g.116914126_116914127dup , CM000668.1:g.116914126_116914127dup GRCh37
NC_000006.10:g.117020819_117020820dup NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000466444.7:c.611-17_611-16dup MANE Select ENSP00000420357.2:n.611-17_611-16dup
ENST00000466444.6:c.611-17_611-16dup ENSP00000420357.2:n.611-17_611-16dup
ENST00000487832.6:c.323-17_323-16dup ENSP00000428778.1:n.323-17_323-16dup
NM_001007464.2:c.323-17_323-16dup NP_001007465.1:n.323-17_323-16dup
NM_015952.3:c.611-17_611-16dup NP_057036.2:n.611-17_611-16dup
NM_016104.3:c.323-17_323-16dup NP_057188.2:n.323-17_323-16dup
NM_015952.4:c.611-17_611-16dup MANE Select NP_057036.2:n.611-17_611-16dup
NM_001007464.3:c.323-17_323-16dup NP_001007465.1:n.323-17_323-16dup
NM_016104.4:c.323-17_323-16dup NP_057188.2:n.323-17_323-16dup
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