Canonical Allele Identifier: CA294183941
Community Standard Title: NM_001005498.4(RHBDF2):c.801+145dup
Gene: RHBDF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.76477512dup , CM000679.2:g.76477512dup GRCh38
NC_000017.10:g.74473594dup , CM000679.1:g.74473594dup GRCh37
NC_000017.9:g.71985189dup NCBI36
NG_032852.1:g.28916dup , LRG_532:g.28916dup

Transcript Alleles

HGVS Amino-acid Change
NM_001005498.4:c.801+145dup MANE Select NP_001005498.2:n.801+145dup
ENST00000675367.1:c.801+145dup MANE Select ENSP00000501790.1:n.801+145dup
NM_001005498.3:c.801+145dup NP_001005498.2:n.801+145dup
NM_001376228.1:c.801+145dup NP_001363157.1:n.801+145dup
NM_001376229.1:c.801+145dup NP_001363158.1:n.801+145dup
NM_001376230.1:c.801+145dup NP_001363159.1:n.801+145dup
NM_024599.5:c.888+145dup , LRG_532t1:c.888+145dup NP_078875.4:n.888+145dup
NR_164785.1:n.1450+145dup
NR_164786.1:n.1192+145dup
NR_164787.1:n.1508+145dup
ENST00000313080.8:c.888+145dup ENSP00000322775.3:n.888+145dup
ENST00000587640.1:n.876+145dup
ENST00000589582.5:n.835+134dup
ENST00000590168.5:n.75+145dup
ENST00000591885.5:c.801+145dup ENSP00000466867.1:n.801+145dup
ENST00000674875.1:n.1445+145dup
XM_005257669.2:c.888+145dup XP_005257726.1:n.888+145dup
XM_005257669.3:c.888+145dup XP_005257726.1:n.888+145dup
XM_005257670.1:c.801+145dup XP_005257727.1:n.801+145dup
XM_011525249.1:c.801+145dup XP_011523551.1:n.801+145dup
XM_011525249.2:c.801+145dup XP_011523551.1:n.801+145dup
XM_011525250.1:c.801+145dup XP_011523552.1:n.801+145dup
XM_011525250.2:c.801+145dup XP_011523552.1:n.801+145dup
XM_011525251.1:c.801+145dup XP_011523553.1:n.801+145dup
XM_011525251.2:c.801+145dup XP_011523553.1:n.801+145dup
XM_011525252.1:c.888+145dup XP_011523554.1:n.888+145dup
XM_017025079.1:c.801+145dup XP_016880568.1:n.801+145dup
XR_001752625.2:n.1175+145dup