Canonical Allele Identifier: CA658796451

Gene: ABCG2

Linked Data

• ClinVar Variation Id: 522888
• ClinVar RCV Id: RCV000626079
• dbSNP Id: rs1553935607
• MyVariant Identifiers: chr4:g.89052325del (hg19) ; chr4:g.88131173del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88131174del , CM000666.2:g.88131174del	GRCh38
NC_000004.11:g.89052326del , CM000666.1:g.89052326del	GRCh37
NC_000004.10:g.89271350del	NCBI36
NG_032067.2:g.105150del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237612.8:c.419del MANE Select	ENSP00000237612.3:p.Leu140TyrfsTer13
ENST00000650821.1:c.419del	ENSP00000498246.1:p.Leu140TyrfsTer13
ENST00000237612.7:c.419del	ENSP00000237612.3:p.Leu140TyrfsTer13
ENST00000515655.5:c.419del	ENSP00000426917.1:p.Leu140TyrfsTer13
NM_001257386.1:c.419del	NP_001244315.1:p.Leu140TyrfsTer13
NM_004827.2:c.419del	NP_004818.2:p.Leu140TyrfsTer13
XM_005263354.2:c.419del	XP_005263411.1:p.Leu140TyrfsTer13
XM_005263355.2:c.419del	XP_005263412.1:p.Leu140TyrfsTer13
XM_005263356.2:c.419del	XP_005263413.1:p.Leu140TyrfsTer13
XM_011532420.1:c.419del	XP_011530722.1:p.Leu140TyrfsTer13
NM_001257386.2:c.419del	NP_001244315.1:p.Leu140TyrfsTer13
NM_001348985.1:c.419del	NP_001335914.1:p.Leu140TyrfsTer13
NM_001348986.1:c.419del	NP_001335915.1:p.Leu140TyrfsTer13
NM_001348987.1:c.419del	NP_001335916.1:p.Leu140TyrfsTer13
NM_001348988.1:c.419del	NP_001335917.1:p.Leu140TyrfsTer13
NM_001348989.1:c.419del	NP_001335918.1:p.Leu140TyrfsTer13
XM_005263355.4:c.419del	XP_005263412.1:p.Leu140TyrfsTer13
XM_011532420.3:c.419del	XP_011530722.1:p.Leu140TyrfsTer13
XM_017008852.2:c.419del	XP_016864341.1:p.Leu140TyrfsTer13
NM_004827.3:c.419del MANE Select	NP_004818.2:p.Leu140TyrfsTer13
NM_001348989.2:c.419del	NP_001335918.1:p.Leu140TyrfsTer13