Canonical Allele Identifier: CA2658838071

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43877597-GGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877600_43877601del , CM000664.2:g.43877600_43877601del	GRCh38
NC_000002.11:g.44104739_44104740del , CM000664.1:g.44104739_44104740del	GRCh37
NC_000002.10:g.43958243_43958244del	NCBI36
NG_008884.1:g.43637_43638del
NG_008884.2:g.50659_50660del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1796_1797del MANE Select	ENSP00000272286.2:p.Cys599PhefsTer2
ENST00000272286.2:c.1796_1797del	ENSP00000272286.2:p.Cys599PhefsTer2
NM_022437.2:c.1796_1797del	NP_071882.1:p.Cys599PhefsTer2
XM_005264483.2:c.1793_1794del	XP_005264540.1:p.Cys598PhefsTer2
XM_011533029.1:c.1808_1809del	XP_011531331.1:p.Cys603PhefsTer2
XM_011533030.1:c.1805_1806del	XP_011531332.1:p.Cys602PhefsTer2
XM_011533031.1:c.1580_1581del	XP_011531333.1:p.Cys527PhefsTer2
XR_939707.1:n.2298_2299del
NM_001357321.1:c.1793_1794del	NP_001344250.1:p.Cys598PhefsTer2
XM_011533029.2:c.1808_1809del	XP_011531331.1:p.Cys603PhefsTer2
XM_011533030.2:c.1805_1806del	XP_011531332.1:p.Cys602PhefsTer2
XR_001738891.1:n.2312_2313del
XR_939707.2:n.2312_2313del
NM_022437.3:c.1796_1797del MANE Select	NP_071882.1:p.Cys599PhefsTer2
NM_001357321.2:c.1793_1794del	NP_001344250.1:p.Cys598PhefsTer2