Canonical Allele Identifier: CA2232896286

Gene: RFWD3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74630762_74630766delinsAGAGT , CM000678.2:g.74630762_74630766delinsAGAGT	GRCh38
NC_000016.9:g.74664660_74664664delinsAGAGT , CM000678.1:g.74664660_74664664delinsAGAGT	GRCh37
NC_000016.8:g.73222161_73222165delinsAGAGT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361070.9:c.1754+15_1754+19delinsACTCT MANE Select	ENSP00000354361.4:n.1754+15_1754+19delinsACTCT
ENST00000361070.8:c.1754+15_1754+19delinsACTCT	ENSP00000354361.4:n.1754+15_1754+19delinsACTCT
ENST00000571750.5:c.1754+15_1754+19delinsACTCT	ENSP00000460049.1:n.1754+15_1754+19delinsACTCT
ENST00000575154.1:n.388+15_388+19delinsACTCT
NM_018124.3:c.1754+15_1754+19delinsACTCT	NP_060594.3:n.1754+15_1754+19delinsACTCT
XM_005256021.3:c.1754+15_1754+19delinsACTCT	XP_005256078.1:n.1754+15_1754+19delinsACTCT
XM_005256022.3:c.1754+15_1754+19delinsACTCT	XP_005256079.1:n.1754+15_1754+19delinsACTCT
XM_006721228.2:c.1577+1757_1577+1761delinsACTCT	XP_006721291.1:n.1577+1757_1577+1761delinsACTCT
XM_011523191.1:c.1754+15_1754+19delinsACTCT	XP_011521493.1:n.1754+15_1754+19delinsACTCT
XM_005256021.4:c.1754+15_1754+19delinsACTCT	XP_005256078.1:n.1754+15_1754+19delinsACTCT
XM_005256022.4:c.1754+15_1754+19delinsACTCT	XP_005256079.1:n.1754+15_1754+19delinsACTCT
XM_006721228.3:c.1577+1757_1577+1761delinsACTCT	XP_006721291.1:n.1577+1757_1577+1761delinsACTCT
XM_011523191.3:c.1754+15_1754+19delinsACTCT	XP_011521493.1:n.1754+15_1754+19delinsACTCT
XM_017023391.1:c.1754+15_1754+19delinsACTCT	XP_016878880.1:n.1754+15_1754+19delinsACTCT
XM_017023392.1:c.1577+1757_1577+1761delinsACTCT	XP_016878881.1:n.1577+1757_1577+1761delinsACTCT
NM_018124.4:c.1754+15_1754+19delinsACTCT MANE Select	NP_060594.3:n.1754+15_1754+19delinsACTCT
NM_001370534.1:c.1754+15_1754+19delinsACTCT	NP_001357463.1:n.1754+15_1754+19delinsACTCT
NM_001370535.1:c.1754+15_1754+19delinsACTCT	NP_001357464.1:n.1754+15_1754+19delinsACTCT
NM_001370536.1:c.1577+1757_1577+1761delinsACTCT	NP_001357465.1:n.1577+1757_1577+1761delinsACTCT
NM_001370537.1:c.920+15_920+19delinsACTCT	NP_001357466.1:n.920+15_920+19delinsACTCT
NM_001370539.1:c.920+15_920+19delinsACTCT	NP_001357468.1:n.920+15_920+19delinsACTCT
NM_001370540.1:c.920+15_920+19delinsACTCT	NP_001357469.1:n.920+15_920+19delinsACTCT
NM_001370542.1:c.920+15_920+19delinsACTCT	NP_001357471.1:n.920+15_920+19delinsACTCT
NM_001370543.1:c.920+15_920+19delinsACTCT	NP_001357472.1:n.920+15_920+19delinsACTCT