Canonical Allele Identifier: CA569698045

Gene: RWDD1

Linked Data

• gnomAD v2: 6-116914134-C-CTTTT
• gnomAD v3: 6-116592971-C-CTTTT
• gnomAD v4: 6-116592971-C-CTTTT
• MyVariant Identifiers: chr6:g.116914134_116914135insTTTT (hg19) ; chr6:g.116592971_116592972insTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116592972_116592975dup , CM000668.2:g.116592972_116592975dup	GRCh38
NC_000006.11:g.116914135_116914138dup , CM000668.1:g.116914135_116914138dup	GRCh37
NC_000006.10:g.117020828_117020831dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466444.7:c.611-8_611-5dup MANE Select	ENSP00000420357.2:n.611-8_611-5dup
ENST00000466444.6:c.611-8_611-5dup	ENSP00000420357.2:n.611-8_611-5dup
ENST00000487832.6:c.323-8_323-5dup	ENSP00000428778.1:n.323-8_323-5dup
NM_001007464.2:c.323-8_323-5dup	NP_001007465.1:n.323-8_323-5dup
NM_015952.3:c.611-8_611-5dup	NP_057036.2:n.611-8_611-5dup
NM_016104.3:c.323-8_323-5dup	NP_057188.2:n.323-8_323-5dup
NM_015952.4:c.611-8_611-5dup MANE Select	NP_057036.2:n.611-8_611-5dup
NM_001007464.3:c.323-8_323-5dup	NP_001007465.1:n.323-8_323-5dup
NM_016104.4:c.323-8_323-5dup	NP_057188.2:n.323-8_323-5dup