Canonical Allele Identifier: CA1248636781

Gene: LHCGR STON1-GTF2A1L

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48755611_48755638delinsGCGGCGGCTGCAGCAGCAGCAGCAGCTT , CM000664.2:g.48755611_48755638delinsGCGGCGGCTGCAGCAGCAGCAGCAGCTT	GRCh38
NC_000002.11:g.48982750_48982777delinsGCGGCGGCTGCAGCAGCAGCAGCAGCTT , CM000664.1:g.48982750_48982777delinsGCGGCGGCTGCAGCAGCAGCAGCAGCTT	GRCh37
NC_000002.10:g.48836254_48836281delinsGCGGCGGCTGCAGCAGCAGCAGCAGCTT	NCBI36
NG_008193.1:g.5104_5131delinsAAGCTGCTGCTGCTGCTGCAGCCGCCGC
NG_033050.1:g.230687_230714delinsGCGGCGGCTGCAGCAGCAGCAGCAGCTT
NG_008193.2:g.5104_5131delinsAAGCTGCTGCTGCTGCTGCAGCCGCCGC
NG_033050.2:g.230687_230714delinsGCGGCGGCTGCAGCAGCAGCAGCAGCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.34_61delinsAAGCTGCTGCTGCTGCTGCAGCCGCCGC (LHCGR) MANE Select	ENSP00000294954.6:p.Lys12=
ENST00000294954.11:c.34_61delinsAAGCTGCTGCTGCTGCTGCAGCCGCCGC (LHCGR)	ENSP00000294954.6:p.Lys12=
ENST00000401907.5:c.34_61delinsAAGCTGCTGCTGCTGCTGCAGCCGCCGC (LHCGR)	ENSP00000385406.1:p.Lys12=
ENST00000402114.6:c.3442-20669_3442-20642delinsGCGGCGGCTGCAGCAGCAGCAGCAGCTT (STON1-GTF2A1L)	ENSP00000385701.1:n.3442-20669_3442-20642delinsGCGGCGGCTGCAGC...
ENST00000403273.5:c.34_61delinsAAGCTGCTGCTGCTGCTGCAGCCGCCGC (LHCGR)	ENSP00000385847.1:p.Lys12=
ENST00000405626.5:c.34_61delinsAAGCTGCTGCTGCTGCTGCAGCCGCCGC (LHCGR)	ENSP00000386033.1:p.Lys12=
ENST00000602369.3:c.34_61delinsAAGCTGCTGCTGCTGCTGCAGCCGCCGC	ENSP00000473498.1:p.Lys12=
NM_000233.3:c.34_61delinsAAGCTGCTGCTGCTGCTGCAGCCGCCGC (LHCGR)	NP_000224.2:p.Lys12=
NM_001198593.1:c.3442-20669_3442-20642delinsGCGGCGGCTGCAGCAGCAGCAGCAGCTT (STON1-GTF2A1L)	NP_001185522.1:n.3442-20669_3442-20642delinsGCGGCGGCTGCAGCAGC...
XM_011532828.1:c.34_61delinsAAGCTGCTGCTGCTGCTGCAGCCGCCGC (LHCGR)	XP_011531130.1:p.Lys12=
XM_011532829.1:c.34_61delinsAAGCTGCTGCTGCTGCTGCAGCCGCCGC (LHCGR)	XP_011531131.1:p.Lys12=
XM_011532830.1:c.34_61delinsAAGCTGCTGCTGCTGCTGCAGCCGCCGC (LHCGR)	XP_011531132.1:p.Lys12=
NM_000233.4:c.34_61delinsAAGCTGCTGCTGCTGCTGCAGCCGCCGC (LHCGR) MANE Select	NP_000224.2:p.Lys12=
NM_001198593.2:c.3442-20669_3442-20642delinsGCGGCGGCTGCAGCAGCAGCAGCAGCTT (STON1-GTF2A1L)	NP_001185522.1:n.3442-20669_3442-20642delinsGCGGCGGCTGCAGCAGC...