Canonical Allele Identifier: CA2658820825

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43839107-GGATACCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43839108_43839114del , CM000664.2:g.43839108_43839114del	GRCh38
NC_000002.11:g.44066247_44066253del , CM000664.1:g.44066247_44066253del	GRCh37
NC_000002.10:g.43919751_43919757del	NCBI36
NG_008883.1:g.4706_4712del
NG_008884.1:g.5145_5151del
NG_008884.2:g.12167_12173del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.55_61del MANE Select	ENSP00000272286.2:p.Asp19ArgfsTer?
ENST00000643284.1:n.521-5399_521-5393del
ENST00000644611.1:c.76-5399_76-5393del	ENSP00000495423.1:n.76-5399_76-5393del
ENST00000272286.2:c.55_61del	ENSP00000272286.2:p.Asp19ArgfsTer?
NM_022437.2:c.55_61del	NP_071882.1:p.Asp19ArgfsTer?
XM_005264483.2:c.55_61del	XP_005264540.1:p.Asp19ArgfsTer?
XM_011533029.1:c.76-5399_76-5393del	XP_011531331.1:n.76-5399_76-5393del
XM_011533030.1:c.76-5399_76-5393del	XP_011531332.1:n.76-5399_76-5393del
XM_011533031.1:c.-153-5399_-153-5393del	XP_011531333.1:n.-153-5399_-153-5393del
XR_939707.1:n.566-5399_566-5393del
NM_001357321.1:c.55_61del	NP_001344250.1:p.Asp19ArgfsTer?
XM_011533029.2:c.76-5399_76-5393del	XP_011531331.1:n.76-5399_76-5393del
XM_011533030.2:c.76-5399_76-5393del	XP_011531332.1:n.76-5399_76-5393del
XR_001738891.1:n.580-5399_580-5393del
XR_939707.2:n.580-5399_580-5393del
NM_022437.3:c.55_61del MANE Select	NP_071882.1:p.Asp19ArgfsTer?
NM_001357321.2:c.55_61del	NP_001344250.1:p.Asp19ArgfsTer?