Canonical Allele Identifier: CA532288583

Gene: ABCG8

Linked Data

• dbSNP Id: rs1428285387
• gnomAD v2: 2-44104475-A-AGGAGATCGTGGGAATATGG
• gnomAD v3: 2-43877336-A-AGGAGATCGTGGGAATATGG
• gnomAD v4: 2-43877336-A-AGGAGATCGTGGGAATATGG
• MyVariant Identifiers: chr2:g.44104475_44104476insGGAGATCGTGGGAATATGG (hg19) ; chr2:g.43877336_43877337insGGAGATCGTGGGAATATGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877347_43877365dup , CM000664.2:g.43877347_43877365dup	GRCh38
NC_000002.11:g.44104486_44104504dup , CM000664.1:g.44104486_44104504dup	GRCh37
NC_000002.10:g.43957990_43958008dup	NCBI36
NG_008884.1:g.43384_43402dup
NG_008884.2:g.50406_50424dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1757-214_1757-196dup MANE Select	ENSP00000272286.2:n.1757-214_1757-196dup
ENST00000272286.2:c.1757-214_1757-196dup	ENSP00000272286.2:n.1757-214_1757-196dup
NM_022437.2:c.1757-214_1757-196dup	NP_071882.1:n.1757-214_1757-196dup
XM_005264483.2:c.1754-214_1754-196dup	XP_005264540.1:n.1754-214_1754-196dup
XM_011533029.1:c.1769-214_1769-196dup	XP_011531331.1:n.1769-214_1769-196dup
XM_011533030.1:c.1766-214_1766-196dup	XP_011531332.1:n.1766-214_1766-196dup
XM_011533031.1:c.1541-214_1541-196dup	XP_011531333.1:n.1541-214_1541-196dup
XR_939707.1:n.2259-214_2259-196dup
NM_001357321.1:c.1754-214_1754-196dup	NP_001344250.1:n.1754-214_1754-196dup
XM_011533029.2:c.1769-214_1769-196dup	XP_011531331.1:n.1769-214_1769-196dup
XM_011533030.2:c.1766-214_1766-196dup	XP_011531332.1:n.1766-214_1766-196dup
XR_001738891.1:n.2273-214_2273-196dup
XR_939707.2:n.2273-214_2273-196dup
NM_022437.3:c.1757-214_1757-196dup MANE Select	NP_071882.1:n.1757-214_1757-196dup
NM_001357321.2:c.1754-214_1754-196dup	NP_001344250.1:n.1754-214_1754-196dup