Canonical Allele Identifier: CA2575416704
Gene: RCBTB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.49544695_49544699del , CM000675.2:g.49544695_49544699del GRCh38
NC_000013.10:g.50118831_50118835del , CM000675.1:g.50118831_50118835del GRCh37
NC_000013.9:g.49016832_49016836del NCBI36
NG_046892.1:g.45912_45916del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378302.7:c.1172+42_1172+46del MANE Select ENSP00000367552.2:n.1172+42_1172+46del
ENST00000258646.3:c.1172+42_1172+46del ENSP00000258646.3:n.1172+42_1172+46del
ENST00000378302.6:c.1172+42_1172+46del ENSP00000367552.2:n.1172+42_1172+46del
NM_018191.3:c.1172+42_1172+46del NP_060661.3:n.1172+42_1172+46del
XM_005266441.2:c.1172+42_1172+46del XP_005266498.1:n.1172+42_1172+46del
XM_011535133.1:c.1172+42_1172+46del XP_011533435.1:n.1172+42_1172+46del
XM_011535134.1:c.1172+42_1172+46del XP_011533436.1:n.1172+42_1172+46del
XM_011535135.1:c.785+42_785+46del XP_011533437.1:n.785+42_785+46del
XR_941613.1:n.3745+42_3745+46del
NM_001352500.1:c.1172+42_1172+46del NP_001339429.1:n.1172+42_1172+46del
NM_001352501.1:c.1172+42_1172+46del NP_001339430.1:n.1172+42_1172+46del
NM_001352502.1:c.1172+42_1172+46del NP_001339431.1:n.1172+42_1172+46del
NM_001352503.1:c.1172+42_1172+46del NP_001339432.1:n.1172+42_1172+46del
NM_001352504.1:c.1172+42_1172+46del NP_001339433.1:n.1172+42_1172+46del
NM_001352506.1:c.593+42_593+46del NP_001339435.1:n.593+42_593+46del
NR_148015.1:n.1591+42_1591+46del
NR_148016.1:n.1547+42_1547+46del
XM_011535135.2:c.785+42_785+46del XP_011533437.1:n.785+42_785+46del
XR_001749596.1:n.3094+42_3094+46del
NM_018191.4:c.1172+42_1172+46del MANE Select NP_060661.3:n.1172+42_1172+46del
NM_001352500.2:c.1172+42_1172+46del NP_001339429.1:n.1172+42_1172+46del
NM_001352501.2:c.1172+42_1172+46del NP_001339430.1:n.1172+42_1172+46del
NM_001352502.2:c.1172+42_1172+46del NP_001339431.1:n.1172+42_1172+46del
NM_001352503.2:c.1172+42_1172+46del NP_001339432.1:n.1172+42_1172+46del
NM_001352506.2:c.593+42_593+46del NP_001339435.1:n.593+42_593+46del
NR_148015.2:n.1566+42_1566+46del
NR_148016.2:n.1522+42_1522+46del
NM_001352504.2:c.1172+42_1172+46del NP_001339433.1:n.1172+42_1172+46del