Canonical Allele Identifier: CA2699222466

Gene: LHCGR STON1-GTF2A1L

Linked Data

• dbSNP Id: rs2103767726

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48755623_48755624insATGCAG , CM000664.2:g.48755623_48755624insATGCAG	GRCh38
NC_000002.11:g.48982762_48982763insATGCAG , CM000664.1:g.48982762_48982763insATGCAG	GRCh37
NC_000002.10:g.48836266_48836267insATGCAG	NCBI36
NG_008193.1:g.5123_5124insTCTGCA
NG_033050.1:g.230699_230700insATGCAG
NG_008193.2:g.5123_5124insTCTGCA
NG_033050.2:g.230699_230700insATGCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.53_54insTCTGCA (LHCGR) MANE Select	ENSP00000294954.6:p.Leu17_Gln18insHisLeu
ENST00000294954.11:c.53_54insTCTGCA (LHCGR)	ENSP00000294954.6:p.Leu17_Gln18insHisLeu
ENST00000401907.5:c.53_54insTCTGCA (LHCGR)	ENSP00000385406.1:p.Leu17_Gln18insHisLeu
ENST00000402114.6:c.3442-20657_3442-20656insATGCAG (STON1-GTF2A1L)	ENSP00000385701.1:n.3442-20657_3442-20656insATGCAG
ENST00000403273.5:c.53_54insTCTGCA (LHCGR)	ENSP00000385847.1:p.Leu17_Gln18insHisLeu
ENST00000405626.5:c.53_54insTCTGCA (LHCGR)	ENSP00000386033.1:p.Leu17_Gln18insHisLeu
ENST00000602369.3:c.53_54insTCTGCA	ENSP00000473498.1:p.Leu17_Gln18insHisLeu
NM_000233.3:c.53_54insTCTGCA (LHCGR)	NP_000224.2:p.Leu17_Gln18insHisLeu
NM_001198593.1:c.3442-20657_3442-20656insATGCAG (STON1-GTF2A1L)	NP_001185522.1:n.3442-20657_3442-20656insATGCAG
XM_011532828.1:c.53_54insTCTGCA (LHCGR)	XP_011531130.1:p.Leu17_Gln18insHisLeu
XM_011532829.1:c.53_54insTCTGCA (LHCGR)	XP_011531131.1:p.Leu17_Gln18insHisLeu
XM_011532830.1:c.53_54insTCTGCA (LHCGR)	XP_011531132.1:p.Leu17_Gln18insHisLeu
NM_000233.4:c.53_54insTCTGCA (LHCGR) MANE Select	NP_000224.2:p.Leu17_Gln18insHisLeu
NM_001198593.2:c.3442-20657_3442-20656insATGCAG (STON1-GTF2A1L)	NP_001185522.1:n.3442-20657_3442-20656insATGCAG