Canonical Allele Identifier: CA2582342399
Community Standard Title: NM_022436.3(ABCG5):c.576del (p.Ile193PhefsTer?)
Gene: ABCG5 HGNC NCBI
DYNC2LI1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43828041del , CM000664.2:g.43828041del GRCh38
NC_000002.11:g.44055180del , CM000664.1:g.44055180del GRCh37
NC_000002.10:g.43908684del NCBI36
NG_008883.1:g.15779del
NG_053008.1:g.59003del
NG_008884.2:g.1100del

Transcript Alleles

HGVS Amino-acid Change
NM_022436.3:c.576del (ABCG5) MANE Select NP_071881.1:p.Ile193PhefsTer?
ENST00000405322.8:c.576del (ABCG5) MANE Select ENSP00000384513.2:p.Ile193PhefsTer?
NM_001348912.1:c.*671del (DYNC2LI1) NP_001335841.1:n.*671del
NM_001348912.2:c.*671del (DYNC2LI1) NP_001335841.1:n.*671del
NM_001348913.1:c.*671del (DYNC2LI1) NP_001335842.1:n.*671del
NM_001348913.2:c.*671del (DYNC2LI1) NP_001335842.1:n.*671del
NM_022436.2:c.576del (ABCG5) NP_071881.1:p.Ile193PhefsTer?
ENST00000260645.5:c.576del (ABCG5) ENSP00000260645.1:p.Ile193PhefsTer?
ENST00000405322.5:c.333del (ABCG5) ENSP00000384513.1:p.Ile112PhefsTer22
ENST00000409962.1:c.333del (ABCG5) ENSP00000386501.1:p.Ile112PhefsTer29
ENST00000486512.5:c.*329del (ABCG5) ENSP00000430935.1:n.*329del
ENST00000644754.1:n.1230del (ABCG5)
XM_005264480.2:c.576del (ABCG5) XP_005264537.1:p.Ile193PhefsTer?
XM_005264480.4:c.576del (ABCG5) XP_005264537.1:p.Ile193PhefsTer?
XM_006712073.2:c.576del (ABCG5) XP_006712136.1:p.Ile193PhefsTer?
XM_006712073.3:c.576del (ABCG5) XP_006712136.1:p.Ile193PhefsTer?
XM_006712074.2:c.576del (ABCG5) XP_006712137.1:p.Ile193PhefsTer?
XM_006712074.3:c.576del (ABCG5) XP_006712137.1:p.Ile193PhefsTer?
XM_011533024.1:c.576del (ABCG5) XP_011531326.1:p.Ile193PhefsTer?
XM_011533024.2:c.576del (ABCG5) XP_011531326.1:p.Ile193PhefsTer?
XM_011533025.1:c.333del (ABCG5) XP_011531327.1:p.Ile112PhefsTer?
XM_011533025.3:c.333del (ABCG5) XP_011531327.1:p.Ile112PhefsTer?
XM_011533026.1:c.576del (ABCG5) XP_011531328.1:p.Ile193PhefsTer22
XM_011533026.2:c.576del (ABCG5) XP_011531328.1:p.Ile193PhefsTer22
XM_011533027.1:c.63del (ABCG5) XP_011531329.1:p.Ile22PhefsTer?
XM_011533027.3:c.63del (ABCG5) XP_011531329.1:p.Ile22PhefsTer?
XM_011533028.1:c.-122del (ABCG5) XP_011531330.1:n.-122del
XM_011533028.2:c.-122del (ABCG5) XP_011531330.1:n.-122del