Canonical Allele Identifier: CA5739068
Community Standard Title: NM_018180.3(DHX32):c.1714_1716del (p.Arg572del)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.125839168_125839170del , CM000672.2:g.125839168_125839170del GRCh38
NC_000010.10:g.127527737_127527739del , CM000672.1:g.127527737_127527739del GRCh37
NC_000010.9:g.127517727_127517729del NCBI36
NG_029095.1:g.20634_20636del

Transcript Alleles

HGVS Amino-acid Change
NM_018180.3:c.1714_1716del (DHX32) MANE Select NP_060650.2:p.Arg572del
ENST00000284690.4:c.1714_1716del (DHX32) MANE Select ENSP00000284690.3:p.Arg572del
NM_016567.3:c.775-2087_775-2085del (BCCIP) NP_057651.1:n.775-2087_775-2085del
NM_016567.4:c.775-2087_775-2085del (BCCIP) NP_057651.1:n.775-2087_775-2085del
NM_018180.2:c.1714_1716del (DHX32) NP_060650.2:p.Arg572del
NM_078469.2:c.775-2087_775-2085del (BCCIP) NP_510869.1:n.775-2087_775-2085del
NM_078469.3:c.775-2087_775-2085del (BCCIP) NP_510869.1:n.775-2087_775-2085del
ENST00000284690.3:c.1714_1716del (DHX32) ENSP00000284690.3:p.Arg572del
ENST00000299130.7:c.775-2087_775-2085del (BCCIP) ENSP00000299130.3:n.775-2087_775-2085del
ENST00000368721.5:c.586_588del (DHX32) ENSP00000357710.1:p.Arg196del
ENST00000368759.5:c.775-2087_775-2085del (BCCIP) ENSP00000357748.5:n.775-2087_775-2085del