Canonical Allele Identifier: CA3007906531

Gene: LHCGR STON1-GTF2A1L

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48755636_48755637insAGA , CM000664.2:g.48755636_48755637insAGA	GRCh38
NC_000002.11:g.48982775_48982776insAGA , CM000664.1:g.48982775_48982776insAGA	GRCh37
NC_000002.10:g.48836279_48836280insAGA	NCBI36
NG_008193.1:g.5105_5106insTCT
NG_033050.1:g.230712_230713insAGA
NG_008193.2:g.5105_5106insTCT
NG_033050.2:g.230712_230713insAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.35_36insTCT (LHCGR) MANE Select	ENSP00000294954.6:p.Lys12delinsAsnLeu
ENST00000294954.11:c.35_36insTCT (LHCGR)	ENSP00000294954.6:p.Lys12delinsAsnLeu
ENST00000401907.5:c.35_36insTCT (LHCGR)	ENSP00000385406.1:p.Lys12delinsAsnLeu
ENST00000402114.6:c.3442-20644_3442-20643insAGA (STON1-GTF2A1L)	ENSP00000385701.1:n.3442-20644_3442-20643insAGA
ENST00000403273.5:c.35_36insTCT (LHCGR)	ENSP00000385847.1:p.Lys12delinsAsnLeu
ENST00000405626.5:c.35_36insTCT (LHCGR)	ENSP00000386033.1:p.Lys12delinsAsnLeu
ENST00000602369.3:c.35_36insTCT	ENSP00000473498.1:p.Lys12delinsAsnLeu
NM_000233.3:c.35_36insTCT (LHCGR)	NP_000224.2:p.Lys12delinsAsnLeu
NM_001198593.1:c.3442-20644_3442-20643insAGA (STON1-GTF2A1L)	NP_001185522.1:n.3442-20644_3442-20643insAGA
XM_011532828.1:c.35_36insTCT (LHCGR)	XP_011531130.1:p.Lys12delinsAsnLeu
XM_011532829.1:c.35_36insTCT (LHCGR)	XP_011531131.1:p.Lys12delinsAsnLeu
XM_011532830.1:c.35_36insTCT (LHCGR)	XP_011531132.1:p.Lys12delinsAsnLeu
NM_000233.4:c.35_36insTCT (LHCGR) MANE Select	NP_000224.2:p.Lys12delinsAsnLeu
NM_001198593.2:c.3442-20644_3442-20643insAGA (STON1-GTF2A1L)	NP_001185522.1:n.3442-20644_3442-20643insAGA