Canonical Allele Identifier: CA1636127
Community Standard Title: NM_022436.3(ABCG5):c.1890del (p.Phe630LeufsTer8)
Gene: ABCG5 HGNC NCBI
DYNC2LI1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43813184del , CM000664.2:g.43813184del GRCh38
NC_000002.11:g.44040323del , CM000664.1:g.44040323del GRCh37
NC_000002.10:g.43893827del NCBI36
NG_008883.1:g.30638del
NG_053008.1:g.44146del

Transcript Alleles

HGVS Amino-acid Change
NM_022436.3:c.1890del (ABCG5) MANE Select NP_071881.1:p.Phe630LeufsTer8
ENST00000405322.8:c.1890del (ABCG5) MANE Select ENSP00000384513.2:p.Phe630LeufsTer8
NM_001348912.1:c.*15+2660del (DYNC2LI1) NP_001335841.1:n.*15+2660del
NM_001348912.2:c.*15+2660del (DYNC2LI1) NP_001335841.1:n.*15+2660del
NM_001348913.1:c.*15+2660del (DYNC2LI1) NP_001335842.1:n.*15+2660del
NM_001348913.2:c.*15+2660del (DYNC2LI1) NP_001335842.1:n.*15+2660del
NM_022436.2:c.1890del (ABCG5) NP_071881.1:p.Phe630LeufsTer8
ENST00000260645.5:c.1890del (ABCG5) ENSP00000260645.1:p.Phe630LeufsTer8
ENST00000405322.5:c.1377del (ABCG5) ENSP00000384513.1:p.Phe459LeufsTer8
ENST00000409962.1:c.*764del (ABCG5) ENSP00000386501.1:n.*764del
ENST00000486512.5:c.*1159del (ABCG5) ENSP00000430935.1:n.*1159del
ENST00000644754.1:n.2274del (ABCG5)
XM_005264364.3:c.*15+2660del (DYNC2LI1) XP_005264421.1:n.*15+2660del
XM_005264365.3:c.*15+2660del (DYNC2LI1) XP_005264422.1:n.*15+2660del
XM_006712073.2:c.1762+1295del (ABCG5) XP_006712136.1:n.1762+1295del
XM_006712073.3:c.1762+1295del (ABCG5) XP_006712136.1:n.1762+1295del
XM_011533024.1:c.1755del (ABCG5) XP_011531326.1:p.Phe585LeufsTer8
XM_011533024.2:c.1755del (ABCG5) XP_011531326.1:p.Phe585LeufsTer8
XM_011533025.1:c.1647del (ABCG5) XP_011531327.1:p.Phe549LeufsTer8
XM_011533025.3:c.1647del (ABCG5) XP_011531327.1:p.Phe549LeufsTer8
XM_011533026.1:c.1620del (ABCG5) XP_011531328.1:p.Phe540LeufsTer8
XM_011533026.2:c.1620del (ABCG5) XP_011531328.1:p.Phe540LeufsTer8
XM_011533027.1:c.1377del (ABCG5) XP_011531329.1:p.Phe459LeufsTer8
XM_011533027.3:c.1377del (ABCG5) XP_011531329.1:p.Phe459LeufsTer8
XM_011533028.1:c.1053del (ABCG5) XP_011531330.1:p.Phe351LeufsTer8
XM_011533028.2:c.1053del (ABCG5) XP_011531330.1:p.Phe351LeufsTer8