Canonical Allele Identifier: CA46473884

Gene: ABCG8

Linked Data

• dbSNP Id: rs567411515
• gnomAD v3: 2-43877415-CTG-C
• gnomAD v4: 2-43877415-CTG-C
• MyVariant Identifiers: chr2:g.44104555_44104556del (hg19) ; chr2:g.43877416_43877417del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877418_43877419del , CM000664.2:g.43877418_43877419del	GRCh38
NC_000002.11:g.44104557_44104558del , CM000664.1:g.44104557_44104558del	GRCh37
NC_000002.10:g.43958061_43958062del	NCBI36
NG_008884.1:g.43455_43456del
NG_008884.2:g.50477_50478del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1757-143_1757-142del MANE Select	ENSP00000272286.2:n.1757-143_1757-142del
ENST00000272286.2:c.1757-143_1757-142del	ENSP00000272286.2:n.1757-143_1757-142del
NM_022437.2:c.1757-143_1757-142del	NP_071882.1:n.1757-143_1757-142del
XM_005264483.2:c.1754-143_1754-142del	XP_005264540.1:n.1754-143_1754-142del
XM_011533029.1:c.1769-143_1769-142del	XP_011531331.1:n.1769-143_1769-142del
XM_011533030.1:c.1766-143_1766-142del	XP_011531332.1:n.1766-143_1766-142del
XM_011533031.1:c.1541-143_1541-142del	XP_011531333.1:n.1541-143_1541-142del
XR_939707.1:n.2259-143_2259-142del
NM_001357321.1:c.1754-143_1754-142del	NP_001344250.1:n.1754-143_1754-142del
XM_011533029.2:c.1769-143_1769-142del	XP_011531331.1:n.1769-143_1769-142del
XM_011533030.2:c.1766-143_1766-142del	XP_011531332.1:n.1766-143_1766-142del
XR_001738891.1:n.2273-143_2273-142del
XR_939707.2:n.2273-143_2273-142del
NM_022437.3:c.1757-143_1757-142del MANE Select	NP_071882.1:n.1757-143_1757-142del
NM_001357321.2:c.1754-143_1754-142del	NP_001344250.1:n.1754-143_1754-142del