Canonical Allele Identifier: CA1065140321

Gene: ABCG2

Linked Data

• gnomAD v3: 4-88131047-T-TGGGAGACCACTGAAATGTGGGAGACCAAAGCAGGATTGCCTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATAGGGAGACACTGTC
• gnomAD v4: 4-88131047-T-TGGGAGACCACTGAAATGTGGGAGACCAAAGCAGGATTGCCTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATAGGGAGACACTGTC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88131047_88131048insGGGAGACCACTGAAATGTGGGAGACCAAAGCAGGATTGCCTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATAGGGAGACACTGTC , CM000666.2:g.88131047_88131048insGGGAGACCACTGAAATGTGGGAGACCAAAGCAGGATTGCCTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATAGGGAGACACTGTC	GRCh38
NC_000004.11:g.89052199_89052200insGGGAGACCACTGAAATGTGGGAGACCAAAGCAGGATTGCCTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATAGGGAGACACTGTC , CM000666.1:g.89052199_89052200insGGGAGACCACTGAAATGTGGGAGACCAAAGCAGGATTGCCTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATAGGGAGACACTGTC	GRCh37
NC_000004.10:g.89271223_89271224insGGGAGACCACTGAAATGTGGGAGACCAAAGCAGGATTGCCTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATAGGGAGACACTGTC	NCBI36
NG_032067.2:g.105275_105276insGACAGTGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAGGCAATCCTGCTTTGGTCTCCCACATTTCAGTGGTCTCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237612.8:c.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAGGCAATCCTGCTTTGGTCTCCCACATTTCAGTGGTCTCCC MANE Select	ENSP00000237612.3:n.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAG...
ENST00000650821.1:c.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAGGCAATCCTGCTTTGGTCTCCCACATTTCAGTGGTCTCCC	ENSP00000498246.1:n.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAG...
ENST00000237612.7:c.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAGGCAATCCTGCTTTGGTCTCCCACATTTCAGTGGTCTCCC	ENSP00000237612.3:n.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAG...
ENST00000515655.5:c.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAGGCAATCCTGCTTTGGTCTCCCACATTTCAGTGGTCTCCC	ENSP00000426917.1:n.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAG...
NM_001257386.1:c.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAGGCAATCCTGCTTTGGTCTCCCACATTTCAGTGGTCTCCC	NP_001244315.1:n.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAGGCT...
NM_004827.2:c.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAGGCAATCCTGCTTTGGTCTCCCACATTTCAGTGGTCTCCC	NP_004818.2:n.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAGGCTGGT...
XM_005263354.2:c.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAGGCAATCCTGCTTTGGTCTCCCACATTTCAGTGGTCTCCC	XP_005263411.1:n.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAGGCT...
XM_005263355.2:c.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAGGCAATCCTGCTTTGGTCTCCCACATTTCAGTGGTCTCCC	XP_005263412.1:n.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAGGCT...
XM_005263356.2:c.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAGGCAATCCTGCTTTGGTCTCCCACATTTCAGTGGTCTCCC	XP_005263413.1:n.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAGGCT...
XM_011532420.1:c.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAGGCAATCCTGCTTTGGTCTCCCACATTTCAGTGGTCTCCC	XP_011530722.1:n.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAGGCT...
NM_001257386.2:c.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAGGCAATCCTGCTTTGGTCTCCCACATTTCAGTGGTCTCCC	NP_001244315.1:n.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAGGCT...
NM_001348985.1:c.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAGGCAATCCTGCTTTGGTCTCCCACATTTCAGTGGTCTCCC	NP_001335914.1:n.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAGGCT...
NM_001348986.1:c.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAGGCAATCCTGCTTTGGTCTCCCACATTTCAGTGGTCTCCC	NP_001335915.1:n.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAGGCT...
NM_001348987.1:c.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAGGCAATCCTGCTTTGGTCTCCCACATTTCAGTGGTCTCCC	NP_001335916.1:n.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAGGCT...
NM_001348988.1:c.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAGGCAATCCTGCTTTGGTCTCCCACATTTCAGTGGTCTCCC	NP_001335917.1:n.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAGGCT...
NM_001348989.1:c.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAGGCAATCCTGCTTTGGTCTCCCACATTTCAGTGGTCTCCC	NP_001335918.1:n.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAGGCT...
XM_005263355.4:c.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAGGCAATCCTGCTTTGGTCTCCCACATTTCAGTGGTCTCCC	XP_005263412.1:n.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAGGCT...
XM_011532420.3:c.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAGGCAATCCTGCTTTGGTCTCCCACATTTCAGTGGTCTCCC	XP_011530722.1:n.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAGGCT...
XM_017008852.2:c.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAGGCAATCCTGCTTTGGTCTCCCACATTTCAGTGGTCTCCC	XP_016864341.1:n.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAGGCT...
NM_004827.3:c.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAGGCAATCCTGCTTTGGTCTCCCACATTTCAGTGGTCTCCC MANE Select	NP_004818.2:n.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAGGCTGGT...
NM_001348989.2:c.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAGGCAATCCTGCTTTGGTCTCCCACATTTCAGTGGTCTCCC	NP_001335918.1:n.531+13_531+14insGACAGTGTCTCCCTATGTTGCCCAGGCT...