Canonical Allele Identifier: CA2544520116

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846225_43846230del , CM000664.2:g.43846225_43846230del	GRCh38
NC_000002.11:g.44073364_44073369del , CM000664.1:g.44073364_44073369del	GRCh37
NC_000002.10:g.43926868_43926873del	NCBI36
NG_008884.1:g.12262_12267del
NG_008884.2:g.19284_19289del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.236_241del MANE Select	ENSP00000272286.2:p.Ser79_Gln81delinsLys
ENST00000643284.1:n.693_698del
ENST00000644611.1:c.248_253del	ENSP00000495423.1:p.Ser83_Gln85delinsLys
ENST00000272286.2:c.236_241del	ENSP00000272286.2:p.Ser79_Gln81delinsLys
NM_022437.2:c.236_241del	NP_071882.1:p.Ser79_Gln81delinsLys
XM_005264483.2:c.236_241del	XP_005264540.1:p.Ser79_Gln81delinsLys
XM_011533029.1:c.248_253del	XP_011531331.1:p.Ser83_Gln85delinsLys
XM_011533030.1:c.248_253del	XP_011531332.1:p.Ser83_Gln85delinsLys
XM_011533031.1:c.20_25del	XP_011531333.1:p.Ser7_Gln9delinsLys
XR_939707.1:n.738_743del
NM_001357321.1:c.236_241del	NP_001344250.1:p.Ser79_Gln81delinsLys
XM_011533029.2:c.248_253del	XP_011531331.1:p.Ser83_Gln85delinsLys
XM_011533030.2:c.248_253del	XP_011531332.1:p.Ser83_Gln85delinsLys
XR_001738891.1:n.752_757del
XR_939707.2:n.752_757del
NM_022437.3:c.236_241del MANE Select	NP_071882.1:p.Ser79_Gln81delinsLys
NM_001357321.2:c.236_241del	NP_001344250.1:p.Ser79_Gln81delinsLys