Canonical Allele Identifier: CA129171
Gene: ABCG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 30384
ClinVar RCV Id: RCV000023334
dbSNP Id: rs387906869

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88113386_88113387del , CM000666.2:g.88113386_88113387del GRCh38
NC_000004.11:g.89034538_89034539del , CM000666.1:g.89034538_89034539del GRCh37
NC_000004.10:g.89253562_89253563del NCBI36
NG_032067.2:g.122937_122938del

Transcript Alleles

HGVS Amino-acid change
ENST00000237612.8:c.1111_1112del MANE Select ENSP00000237612.3:p.Thr371LeufsTer20
ENST00000650821.1:c.1111_1112del ENSP00000498246.1:p.Thr371LeufsTer20
ENST00000237612.7:c.1111_1112del ENSP00000237612.3:p.Thr371LeufsTer20
ENST00000515655.5:c.1111_1112del ENSP00000426917.1:p.Thr371LeufsTer20
NM_001257386.1:c.1111_1112del NP_001244315.1:p.Thr371LeufsTer20
NM_004827.2:c.1111_1112del NP_004818.2:p.Thr371LeufsTer20
XM_005263354.2:c.1111_1112del XP_005263411.1:p.Thr371LeufsTer20
XM_005263355.2:c.1111_1112del XP_005263412.1:p.Thr371LeufsTer20
XM_005263356.2:c.1105_1106del XP_005263413.1:p.Thr369LeufsTer20
XM_011532420.1:c.1111_1112del XP_011530722.1:p.Thr371LeufsTer20
NM_001257386.2:c.1111_1112del NP_001244315.1:p.Thr371LeufsTer20
NM_001348985.1:c.1111_1112del NP_001335914.1:p.Thr371LeufsTer20
NM_001348986.1:c.1111_1112del NP_001335915.1:p.Thr371LeufsTer20
NM_001348987.1:c.1105_1106del NP_001335916.1:p.Thr369LeufsTer20
NM_001348988.1:c.1111_1112del NP_001335917.1:p.Thr371LeufsTer20
NM_001348989.1:c.1111_1112del NP_001335918.1:p.Thr371LeufsTer20
XM_005263355.4:c.1111_1112del XP_005263412.1:p.Thr371LeufsTer20
XM_011532420.3:c.1111_1112del XP_011530722.1:p.Thr371LeufsTer20
XM_017008852.2:c.1105_1106del XP_016864341.1:p.Thr369LeufsTer20
NM_004827.3:c.1111_1112del MANE Select NP_004818.2:p.Thr371LeufsTer20
NM_001348989.2:c.1111_1112del NP_001335918.1:p.Thr371LeufsTer20