Canonical Allele Identifier: CA2749705969

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877842_43877843insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA , CM000664.2:g.43877842_43877843insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA	GRCh38
NC_000002.11:g.44104981_44104982insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA , CM000664.1:g.44104981_44104982insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA	GRCh37
NC_000002.10:g.43958485_43958486insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA	NCBI36
NG_008884.1:g.43879_43880insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA
NG_008884.2:g.50901_50902insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1951_1952insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA MANE Select	ENSP00000272286.2:p.Ser651ThrfsTer?
ENST00000272286.2:c.1951_1952insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA	ENSP00000272286.2:p.Ser651ThrfsTer?
NM_022437.2:c.1951_1952insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA	NP_071882.1:p.Ser651ThrfsTer?
XM_005264483.2:c.1948_1949insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA	XP_005264540.1:p.Ser650ThrfsTer?
XM_011533029.1:c.1963_1964insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA	XP_011531331.1:p.Ser655ThrfsTer?
XM_011533030.1:c.1960_1961insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA	XP_011531332.1:p.Ser654ThrfsTer?
XM_011533031.1:c.1735_1736insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA	XP_011531333.1:p.Ser579ThrfsTer?
XR_939707.1:n.2453_2454insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA
NM_001357321.1:c.1948_1949insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA	NP_001344250.1:p.Ser650ThrfsTer?
XM_011533029.2:c.1963_1964insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA	XP_011531331.1:p.Ser655ThrfsTer?
XM_011533030.2:c.1960_1961insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA	XP_011531332.1:p.Ser654ThrfsTer?
XR_001738891.1:n.2467_2468insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA
XR_939707.2:n.2467_2468insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA
NM_022437.3:c.1951_1952insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA MANE Select	NP_071882.1:p.Ser651ThrfsTer?
NM_001357321.2:c.1948_1949insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA	NP_001344250.1:p.Ser650ThrfsTer?