Canonical Allele Identifier: CA2493964942

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877470_43877472delinsGAC , CM000664.2:g.43877470_43877472delinsGAC	GRCh38
NC_000002.11:g.44104609_44104611delinsGAC , CM000664.1:g.44104609_44104611delinsGAC	GRCh37
NC_000002.10:g.43958113_43958115delinsGAC	NCBI36
NG_008884.1:g.43507_43509delinsGAC
NG_008884.2:g.50529_50531delinsGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1757-91_1757-89delinsGAC MANE Select	ENSP00000272286.2:n.1757-91_1757-89delinsGAC
ENST00000272286.2:c.1757-91_1757-89delinsGAC	ENSP00000272286.2:n.1757-91_1757-89delinsGAC
NM_022437.2:c.1757-91_1757-89delinsGAC	NP_071882.1:n.1757-91_1757-89delinsGAC
XM_005264483.2:c.1754-91_1754-89delinsGAC	XP_005264540.1:n.1754-91_1754-89delinsGAC
XM_011533029.1:c.1769-91_1769-89delinsGAC	XP_011531331.1:n.1769-91_1769-89delinsGAC
XM_011533030.1:c.1766-91_1766-89delinsGAC	XP_011531332.1:n.1766-91_1766-89delinsGAC
XM_011533031.1:c.1541-91_1541-89delinsGAC	XP_011531333.1:n.1541-91_1541-89delinsGAC
XR_939707.1:n.2259-91_2259-89delinsGAC
NM_001357321.1:c.1754-91_1754-89delinsGAC	NP_001344250.1:n.1754-91_1754-89delinsGAC
XM_011533029.2:c.1769-91_1769-89delinsGAC	XP_011531331.1:n.1769-91_1769-89delinsGAC
XM_011533030.2:c.1766-91_1766-89delinsGAC	XP_011531332.1:n.1766-91_1766-89delinsGAC
XR_001738891.1:n.2273-91_2273-89delinsGAC
XR_939707.2:n.2273-91_2273-89delinsGAC
NM_022437.3:c.1757-91_1757-89delinsGAC MANE Select	NP_071882.1:n.1757-91_1757-89delinsGAC
NM_001357321.2:c.1754-91_1754-89delinsGAC	NP_001344250.1:n.1754-91_1754-89delinsGAC