Canonical Allele Identifier: CA2749705961

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877363_43877435del , CM000664.2:g.43877363_43877435del	GRCh38
NC_000002.11:g.44104502_44104574del , CM000664.1:g.44104502_44104574del	GRCh37
NC_000002.10:g.43958006_43958078del	NCBI36
NG_008884.1:g.43400_43472del
NG_008884.2:g.50422_50494del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1757-198_1757-126del MANE Select	ENSP00000272286.2:n.1757-198_1757-126del
ENST00000272286.2:c.1757-198_1757-126del	ENSP00000272286.2:n.1757-198_1757-126del
NM_022437.2:c.1757-198_1757-126del	NP_071882.1:n.1757-198_1757-126del
XM_005264483.2:c.1754-198_1754-126del	XP_005264540.1:n.1754-198_1754-126del
XM_011533029.1:c.1769-198_1769-126del	XP_011531331.1:n.1769-198_1769-126del
XM_011533030.1:c.1766-198_1766-126del	XP_011531332.1:n.1766-198_1766-126del
XM_011533031.1:c.1541-198_1541-126del	XP_011531333.1:n.1541-198_1541-126del
XR_939707.1:n.2259-198_2259-126del
NM_001357321.1:c.1754-198_1754-126del	NP_001344250.1:n.1754-198_1754-126del
XM_011533029.2:c.1769-198_1769-126del	XP_011531331.1:n.1769-198_1769-126del
XM_011533030.2:c.1766-198_1766-126del	XP_011531332.1:n.1766-198_1766-126del
XR_001738891.1:n.2273-198_2273-126del
XR_939707.2:n.2273-198_2273-126del
NM_022437.3:c.1757-198_1757-126del MANE Select	NP_071882.1:n.1757-198_1757-126del
NM_001357321.2:c.1754-198_1754-126del	NP_001344250.1:n.1754-198_1754-126del