Canonical Allele Identifier: CA2658838106

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43877900-GTCAAGACTGGTGATTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877901_43877916del , CM000664.2:g.43877901_43877916del	GRCh38
NC_000002.11:g.44105040_44105055del , CM000664.1:g.44105040_44105055del	GRCh37
NC_000002.10:g.43958544_43958559del	NCBI36
NG_008884.1:g.43938_43953del
NG_008884.2:g.50960_50975del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.2010_*3del MANE Select	ENSP00000272286.2:n.[c.2010_*3del;Ser670ArgfsTer12]
ENST00000272286.2:c.2010_*3del	ENSP00000272286.2:n.[c.2010_*3del;Ser670ArgfsTer12]
NM_022437.2:c.2010_*3del	NP_071882.1:n.[c.2010_*3del;Ser670ArgfsTer12]
XM_005264483.2:c.2007_*3del	XP_005264540.1:n.[c.2007_*3del;Ser669ArgfsTer12]
XM_011533029.1:c.2022_*3del	XP_011531331.1:n.[c.2022_*3del;Ser674ArgfsTer12]
XM_011533030.1:c.2019_*3del	XP_011531332.1:n.[c.2019_*3del;Ser673ArgfsTer12]
XM_011533031.1:c.1794_*3del	XP_011531333.1:n.[c.1794_*3del;Ser598ArgfsTer12]
XR_939707.1:n.2512_2527del
NM_001357321.1:c.2007_*3del	NP_001344250.1:n.[c.2007_*3del;Ser669ArgfsTer12]
XM_011533029.2:c.2022_*3del	XP_011531331.1:n.[c.2022_*3del;Ser674ArgfsTer12]
XM_011533030.2:c.2019_*3del	XP_011531332.1:n.[c.2019_*3del;Ser673ArgfsTer12]
XR_001738891.1:n.2526_2541del
XR_939707.2:n.2526_2541del
NM_022437.3:c.2010_*3del MANE Select	NP_071882.1:n.[c.2010_*3del;Ser670ArgfsTer12]
NM_001357321.2:c.2007_*3del	NP_001344250.1:n.[c.2007_*3del;Ser669ArgfsTer12]