Canonical Allele Identifier: CA532288675

Gene: ABCG8

Linked Data

• dbSNP Id: rs1276454047
• gnomAD v2: 2-44105129-CCTGGGGACAG-C
• gnomAD v3: 2-43877990-CCTGGGGACAG-C
• gnomAD v4: 2-43877990-CCTGGGGACAG-C
• MyVariant Identifiers: chr2:g.44105130_44105139del (hg19) ; chr2:g.43877991_43878000del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877991_43878000del , CM000664.2:g.43877991_43878000del	GRCh38
NC_000002.11:g.44105130_44105139del , CM000664.1:g.44105130_44105139del	GRCh37
NC_000002.10:g.43958634_43958643del	NCBI36
NG_008884.1:g.44028_44037del
NG_008884.2:g.51050_51059del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.*78_*87del MANE Select	ENSP00000272286.2:n.*78_*87del
ENST00000272286.2:c.*78_*87del	ENSP00000272286.2:n.*78_*87del
NM_022437.2:c.*78_*87del	NP_071882.1:n.*78_*87del
XM_005264483.2:c.*78_*87del	XP_005264540.1:n.*78_*87del
XM_011533029.1:c.*78_*87del	XP_011531331.1:n.*78_*87del
XM_011533030.1:c.*78_*87del	XP_011531332.1:n.*78_*87del
XM_011533031.1:c.*78_*87del	XP_011531333.1:n.*78_*87del
XR_939707.1:n.2602_2611del
NM_001357321.1:c.*78_*87del	NP_001344250.1:n.*78_*87del
XM_011533029.2:c.*78_*87del	XP_011531331.1:n.*78_*87del
XM_011533030.2:c.*78_*87del	XP_011531332.1:n.*78_*87del
XR_001738891.1:n.2616_2625del
XR_939707.2:n.2616_2625del
NM_022437.3:c.*78_*87del MANE Select	NP_071882.1:n.*78_*87del
NM_001357321.2:c.*78_*87del	NP_001344250.1:n.*78_*87del