Canonical Allele Identifier: CA2232896285

Gene: RFWD3

Linked Data

• dbSNP Id: rs1959069323
• gnomAD v4: 16-74630758-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74630761_74630762del , CM000678.2:g.74630761_74630762del	GRCh38
NC_000016.9:g.74664659_74664660del , CM000678.1:g.74664659_74664660del	GRCh37
NC_000016.8:g.73222160_73222161del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361070.9:c.1754+21_1754+22del MANE Select	ENSP00000354361.4:n.1754+21_1754+22del
ENST00000361070.8:c.1754+21_1754+22del	ENSP00000354361.4:n.1754+21_1754+22del
ENST00000571750.5:c.1754+21_1754+22del	ENSP00000460049.1:n.1754+21_1754+22del
ENST00000575154.1:n.388+21_388+22del
NM_018124.3:c.1754+21_1754+22del	NP_060594.3:n.1754+21_1754+22del
XM_005256021.3:c.1754+21_1754+22del	XP_005256078.1:n.1754+21_1754+22del
XM_005256022.3:c.1754+21_1754+22del	XP_005256079.1:n.1754+21_1754+22del
XM_006721228.2:c.1577+1763_1577+1764del	XP_006721291.1:n.1577+1763_1577+1764del
XM_011523191.1:c.1754+21_1754+22del	XP_011521493.1:n.1754+21_1754+22del
XM_005256021.4:c.1754+21_1754+22del	XP_005256078.1:n.1754+21_1754+22del
XM_005256022.4:c.1754+21_1754+22del	XP_005256079.1:n.1754+21_1754+22del
XM_006721228.3:c.1577+1763_1577+1764del	XP_006721291.1:n.1577+1763_1577+1764del
XM_011523191.3:c.1754+21_1754+22del	XP_011521493.1:n.1754+21_1754+22del
XM_017023391.1:c.1754+21_1754+22del	XP_016878880.1:n.1754+21_1754+22del
XM_017023392.1:c.1577+1763_1577+1764del	XP_016878881.1:n.1577+1763_1577+1764del
NM_018124.4:c.1754+21_1754+22del MANE Select	NP_060594.3:n.1754+21_1754+22del
NM_001370534.1:c.1754+21_1754+22del	NP_001357463.1:n.1754+21_1754+22del
NM_001370535.1:c.1754+21_1754+22del	NP_001357464.1:n.1754+21_1754+22del
NM_001370536.1:c.1577+1763_1577+1764del	NP_001357465.1:n.1577+1763_1577+1764del
NM_001370537.1:c.920+21_920+22del	NP_001357466.1:n.920+21_920+22del
NM_001370539.1:c.920+21_920+22del	NP_001357468.1:n.920+21_920+22del
NM_001370540.1:c.920+21_920+22del	NP_001357469.1:n.920+21_920+22del
NM_001370542.1:c.920+21_920+22del	NP_001357471.1:n.920+21_920+22del
NM_001370543.1:c.920+21_920+22del	NP_001357472.1:n.920+21_920+22del