Canonical Allele Identifier: CA532280607

Gene: ABCG8

Linked Data

• dbSNP Id: rs1468510636
• gnomAD v2: 2-44066173-GTC-G
• gnomAD v4: 2-43839034-GTC-G
• MyVariant Identifiers: chr2:g.44066174_44066175del (hg19) ; chr2:g.43839035_43839036del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43839035_43839036del , CM000664.2:g.43839035_43839036del	GRCh38
NC_000002.11:g.44066174_44066175del , CM000664.1:g.44066174_44066175del	GRCh37
NC_000002.10:g.43919678_43919679del	NCBI36
NG_008883.1:g.4784_4785del
NG_008884.1:g.5072_5073del
NG_008884.2:g.12094_12095del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.-19_-18del MANE Select	ENSP00000272286.2:n.-19_-18del
ENST00000643284.1:n.521-5472_521-5471del
ENST00000644611.1:c.76-5472_76-5471del	ENSP00000495423.1:n.76-5472_76-5471del
ENST00000272286.2:c.-19_-18del	ENSP00000272286.2:n.-19_-18del
NM_022437.2:c.-19_-18del	NP_071882.1:n.-19_-18del
XM_005264483.2:c.-19_-18del	XP_005264540.1:n.-19_-18del
XM_011533029.1:c.76-5472_76-5471del	XP_011531331.1:n.76-5472_76-5471del
XM_011533030.1:c.76-5472_76-5471del	XP_011531332.1:n.76-5472_76-5471del
XM_011533031.1:c.-153-5472_-153-5471del	XP_011531333.1:n.-153-5472_-153-5471del
XR_939707.1:n.566-5472_566-5471del
NM_001357321.1:c.-19_-18del	NP_001344250.1:n.-19_-18del
XM_011533029.2:c.76-5472_76-5471del	XP_011531331.1:n.76-5472_76-5471del
XM_011533030.2:c.76-5472_76-5471del	XP_011531332.1:n.76-5472_76-5471del
XR_001738891.1:n.580-5472_580-5471del
XR_939707.2:n.580-5472_580-5471del
NM_022437.3:c.-19_-18del MANE Select	NP_071882.1:n.-19_-18del
NM_001357321.2:c.-19_-18del	NP_001344250.1:n.-19_-18del