Canonical Allele Identifier: CA1029988979

Gene: ABCG8

Linked Data

• gnomAD v3: 2-43877211-ATGGGAATATGAGGAAACTGGATATGGGGGAGGCCGTGTCAATATAAAGGAGACCG-A
• gnomAD v4: 2-43877211-ATGGGAATATGAGGAAACTGGATATGGGGGAGGCCGTGTCAATATAAAGGAGACCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877222_43877276del , CM000664.2:g.43877222_43877276del	GRCh38
NC_000002.11:g.44104361_44104415del , CM000664.1:g.44104361_44104415del	GRCh37
NC_000002.10:g.43957865_43957919del	NCBI36
NG_008884.1:g.43259_43313del
NG_008884.2:g.50281_50335del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1757-339_1757-285del MANE Select	ENSP00000272286.2:n.1757-339_1757-285del
ENST00000272286.2:c.1757-339_1757-285del	ENSP00000272286.2:n.1757-339_1757-285del
NM_022437.2:c.1757-339_1757-285del	NP_071882.1:n.1757-339_1757-285del
XM_005264483.2:c.1754-339_1754-285del	XP_005264540.1:n.1754-339_1754-285del
XM_011533029.1:c.1769-339_1769-285del	XP_011531331.1:n.1769-339_1769-285del
XM_011533030.1:c.1766-339_1766-285del	XP_011531332.1:n.1766-339_1766-285del
XM_011533031.1:c.1541-339_1541-285del	XP_011531333.1:n.1541-339_1541-285del
XR_939707.1:n.2259-339_2259-285del
NM_001357321.1:c.1754-339_1754-285del	NP_001344250.1:n.1754-339_1754-285del
XM_011533029.2:c.1769-339_1769-285del	XP_011531331.1:n.1769-339_1769-285del
XM_011533030.2:c.1766-339_1766-285del	XP_011531332.1:n.1766-339_1766-285del
XR_001738891.1:n.2273-339_2273-285del
XR_939707.2:n.2273-339_2273-285del
NM_022437.3:c.1757-339_1757-285del MANE Select	NP_071882.1:n.1757-339_1757-285del
NM_001357321.2:c.1754-339_1754-285del	NP_001344250.1:n.1754-339_1754-285del