Canonical Allele Identifier: CA2658820649
Gene: ABCG8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43839036_43839037insTGTGCCCCTGGGC , CM000664.2:g.43839036_43839037insTGTGCCCCTGGGC GRCh38
NC_000002.11:g.44066175_44066176insTGTGCCCCTGGGC , CM000664.1:g.44066175_44066176insTGTGCCCCTGGGC GRCh37
NC_000002.10:g.43919679_43919680insTGTGCCCCTGGGC NCBI36
NG_008883.1:g.4784_4785insCCCAGGGGCACAG
NG_008884.1:g.5073_5074insTGTGCCCCTGGGC
NG_008884.2:g.12095_12096insTGTGCCCCTGGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000272286.4:c.-18_-17insTGTGCCCCTGGGC MANE Select ENSP00000272286.2:n.-18_-17insTGTGCCCCTGGGC
ENST00000643284.1:n.521-5471_521-5470insTGTGCCCCTGGGC
ENST00000644611.1:c.76-5471_76-5470insTGTGCCCCTGGGC ENSP00000495423.1:n.76-5471_76-5470insTGTGCCCCTGGGC
ENST00000272286.2:c.-18_-17insTGTGCCCCTGGGC ENSP00000272286.2:n.-18_-17insTGTGCCCCTGGGC
NM_022437.2:c.-18_-17insTGTGCCCCTGGGC NP_071882.1:n.-18_-17insTGTGCCCCTGGGC
XM_005264483.2:c.-18_-17insTGTGCCCCTGGGC XP_005264540.1:n.-18_-17insTGTGCCCCTGGGC
XM_011533029.1:c.76-5471_76-5470insTGTGCCCCTGGGC XP_011531331.1:n.76-5471_76-5470insTGTGCCCCTGGGC
XM_011533030.1:c.76-5471_76-5470insTGTGCCCCTGGGC XP_011531332.1:n.76-5471_76-5470insTGTGCCCCTGGGC
XM_011533031.1:c.-153-5471_-153-5470insTGTGCCCCTGGGC XP_011531333.1:n.-153-5471_-153-5470insTGTGCCCCTGGGC
XR_939707.1:n.566-5471_566-5470insTGTGCCCCTGGGC
NM_001357321.1:c.-18_-17insTGTGCCCCTGGGC NP_001344250.1:n.-18_-17insTGTGCCCCTGGGC
XM_011533029.2:c.76-5471_76-5470insTGTGCCCCTGGGC XP_011531331.1:n.76-5471_76-5470insTGTGCCCCTGGGC
XM_011533030.2:c.76-5471_76-5470insTGTGCCCCTGGGC XP_011531332.1:n.76-5471_76-5470insTGTGCCCCTGGGC
XR_001738891.1:n.580-5471_580-5470insTGTGCCCCTGGGC
XR_939707.2:n.580-5471_580-5470insTGTGCCCCTGGGC
NM_022437.3:c.-18_-17insTGTGCCCCTGGGC MANE Select NP_071882.1:n.-18_-17insTGTGCCCCTGGGC
NM_001357321.2:c.-18_-17insTGTGCCCCTGGGC NP_001344250.1:n.-18_-17insTGTGCCCCTGGGC