Canonical Allele Identifier: CA2569642253

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43878102_43878103insATAATAAGGAAAAGTCTAAGGTGAAGGAAAAGCCTAAGGAGCAATCCAAAGACAAACCGAAGGAACAAGCCAAGGTGAAGTCTAAGGAACAGGCGAAAGAAAAGCCCAAGGAGCAACCTAAGGCTAAACC , CM000664.2:g.43878102_43878103insATAATAAGGAAAAGTCTAAGGTGAAGGAAAAGCCTAAGGAGCAATCCAAAGACAAACCGAAGGAACAAGCCAAGGTGAAGTCTAAGGAACAGGCGAAAGAAAAGCCCAAGGAGCAACCTAAGGCTAAACC	GRCh38
NC_000002.11:g.44105241_44105242insATAATAAGGAAAAGTCTAAGGTGAAGGAAAAGCCTAAGGAGCAATCCAAAGACAAACCGAAGGAACAAGCCAAGGTGAAGTCTAAGGAACAGGCGAAAGAAAAGCCCAAGGAGCAACCTAAGGCTAAACC , CM000664.1:g.44105241_44105242insATAATAAGGAAAAGTCTAAGGTGAAGGAAAAGCCTAAGGAGCAATCCAAAGACAAACCGAAGGAACAAGCCAAGGTGAAGTCTAAGGAACAGGCGAAAGAAAAGCCCAAGGAGCAACCTAAGGCTAAACC	GRCh37
NC_000002.10:g.43958745_43958746insATAATAAGGAAAAGTCTAAGGTGAAGGAAAAGCCTAAGGAGCAATCCAAAGACAAACCGAAGGAACAAGCCAAGGTGAAGTCTAAGGAACAGGCGAAAGAAAAGCCCAAGGAGCAACCTAAGGCTAAACC	NCBI36
NG_008884.1:g.44139_44140insATAATAAGGAAAAGTCTAAGGTGAAGGAAAAGCCTAAGGAGCAATCCAAAGACAAACCGAAGGAACAAGCCAAGGTGAAGTCTAAGGAACAGGCGAAAGAAAAGCCCAAGGAGCAACCTAAGGCTAAACC
NG_008884.2:g.51161_51162insATAATAAGGAAAAGTCTAAGGTGAAGGAAAAGCCTAAGGAGCAATCCAAAGACAAACCGAAGGAACAAGCCAAGGTGAAGTCTAAGGAACAGGCGAAAGAAAAGCCCAAGGAGCAACCTAAGGCTAAACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.*189_*190insATAATAAGGAAAAGTCTAAGGTGAAGGAAAAGCCTAAGGAGCAATCCAAAGACAAACCGAAGGAACAAGCCAAGGTGAAGTCTAAGGAACAGGCGAAAGAAAAGCCCAAGGAGCAACCTAAGGCTAAACC MANE Select	ENSP00000272286.2:n.*189_*190insATAATAAGGAAAAGTCTAAGGTGAAGGAA...
ENST00000272286.2:c.*189_*190insATAATAAGGAAAAGTCTAAGGTGAAGGAAAAGCCTAAGGAGCAATCCAAAGACAAACCGAAGGAACAAGCCAAGGTGAAGTCTAAGGAACAGGCGAAAGAAAAGCCCAAGGAGCAACCTAAGGCTAAACC	ENSP00000272286.2:n.*189_*190insATAATAAGGAAAAGTCTAAGGTGAAGGAA...
NM_022437.2:c.*189_*190insATAATAAGGAAAAGTCTAAGGTGAAGGAAAAGCCTAAGGAGCAATCCAAAGACAAACCGAAGGAACAAGCCAAGGTGAAGTCTAAGGAACAGGCGAAAGAAAAGCCCAAGGAGCAACCTAAGGCTAAACC	NP_071882.1:n.*189_*190insATAATAAGGAAAAGTCTAAGGTGAAGGAAAAGCCT...
XM_005264483.2:c.*189_*190insATAATAAGGAAAAGTCTAAGGTGAAGGAAAAGCCTAAGGAGCAATCCAAAGACAAACCGAAGGAACAAGCCAAGGTGAAGTCTAAGGAACAGGCGAAAGAAAAGCCCAAGGAGCAACCTAAGGCTAAACC	XP_005264540.1:n.*189_*190insATAATAAGGAAAAGTCTAAGGTGAAGGAAAAG...
XM_011533029.1:c.*189_*190insATAATAAGGAAAAGTCTAAGGTGAAGGAAAAGCCTAAGGAGCAATCCAAAGACAAACCGAAGGAACAAGCCAAGGTGAAGTCTAAGGAACAGGCGAAAGAAAAGCCCAAGGAGCAACCTAAGGCTAAACC	XP_011531331.1:n.*189_*190insATAATAAGGAAAAGTCTAAGGTGAAGGAAAAG...
XM_011533030.1:c.*189_*190insATAATAAGGAAAAGTCTAAGGTGAAGGAAAAGCCTAAGGAGCAATCCAAAGACAAACCGAAGGAACAAGCCAAGGTGAAGTCTAAGGAACAGGCGAAAGAAAAGCCCAAGGAGCAACCTAAGGCTAAACC	XP_011531332.1:n.*189_*190insATAATAAGGAAAAGTCTAAGGTGAAGGAAAAG...
XM_011533031.1:c.*189_*190insATAATAAGGAAAAGTCTAAGGTGAAGGAAAAGCCTAAGGAGCAATCCAAAGACAAACCGAAGGAACAAGCCAAGGTGAAGTCTAAGGAACAGGCGAAAGAAAAGCCCAAGGAGCAACCTAAGGCTAAACC	XP_011531333.1:n.*189_*190insATAATAAGGAAAAGTCTAAGGTGAAGGAAAAG...
XR_939707.1:n.2713_2714insATAATAAGGAAAAGTCTAAGGTGAAGGAAAAGCCTAAGGAGCAATCCAAAGACAAACCGAAGGAACAAGCCAAGGTGAAGTCTAAGGAACAGGCGAAAGAAAAGCCCAAGGAGCAACCTAAGGCTAAACC
NM_001357321.1:c.*189_*190insATAATAAGGAAAAGTCTAAGGTGAAGGAAAAGCCTAAGGAGCAATCCAAAGACAAACCGAAGGAACAAGCCAAGGTGAAGTCTAAGGAACAGGCGAAAGAAAAGCCCAAGGAGCAACCTAAGGCTAAACC	NP_001344250.1:n.*189_*190insATAATAAGGAAAAGTCTAAGGTGAAGGAAAAG...
XM_011533029.2:c.*189_*190insATAATAAGGAAAAGTCTAAGGTGAAGGAAAAGCCTAAGGAGCAATCCAAAGACAAACCGAAGGAACAAGCCAAGGTGAAGTCTAAGGAACAGGCGAAAGAAAAGCCCAAGGAGCAACCTAAGGCTAAACC	XP_011531331.1:n.*189_*190insATAATAAGGAAAAGTCTAAGGTGAAGGAAAAG...
XM_011533030.2:c.*189_*190insATAATAAGGAAAAGTCTAAGGTGAAGGAAAAGCCTAAGGAGCAATCCAAAGACAAACCGAAGGAACAAGCCAAGGTGAAGTCTAAGGAACAGGCGAAAGAAAAGCCCAAGGAGCAACCTAAGGCTAAACC	XP_011531332.1:n.*189_*190insATAATAAGGAAAAGTCTAAGGTGAAGGAAAAG...
XR_001738891.1:n.2727_2728insATAATAAGGAAAAGTCTAAGGTGAAGGAAAAGCCTAAGGAGCAATCCAAAGACAAACCGAAGGAACAAGCCAAGGTGAAGTCTAAGGAACAGGCGAAAGAAAAGCCCAAGGAGCAACCTAAGGCTAAACC
XR_939707.2:n.2727_2728insATAATAAGGAAAAGTCTAAGGTGAAGGAAAAGCCTAAGGAGCAATCCAAAGACAAACCGAAGGAACAAGCCAAGGTGAAGTCTAAGGAACAGGCGAAAGAAAAGCCCAAGGAGCAACCTAAGGCTAAACC
NM_022437.3:c.*189_*190insATAATAAGGAAAAGTCTAAGGTGAAGGAAAAGCCTAAGGAGCAATCCAAAGACAAACCGAAGGAACAAGCCAAGGTGAAGTCTAAGGAACAGGCGAAAGAAAAGCCCAAGGAGCAACCTAAGGCTAAACC MANE Select	NP_071882.1:n.*189_*190insATAATAAGGAAAAGTCTAAGGTGAAGGAAAAGCCT...
NM_001357321.2:c.*189_*190insATAATAAGGAAAAGTCTAAGGTGAAGGAAAAGCCTAAGGAGCAATCCAAAGACAAACCGAAGGAACAAGCCAAGGTGAAGTCTAAGGAACAGGCGAAAGAAAAGCCCAAGGAGCAACCTAAGGCTAAACC	NP_001344250.1:n.*189_*190insATAATAAGGAAAAGTCTAAGGTGAAGGAAAAG...