Canonical Allele Identifier: CA47295577

Gene: LHCGR STON1-GTF2A1L

Linked Data

• dbSNP Id: rs992108973
• gnomAD v2: 2-48982774-GCTT-G
• gnomAD v4: 2-48755635-GCTT-G
• MyVariant Identifiers: chr2:g.48982775_48982777del (hg19) ; chr2:g.48755637_48755639del (hg38) ; chr2:g.48755636_48755638del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48755637_48755639del , CM000664.2:g.48755637_48755639del	GRCh38
NC_000002.11:g.48982776_48982778del , CM000664.1:g.48982776_48982778del	GRCh37
NC_000002.10:g.48836280_48836282del	NCBI36
NG_008193.1:g.5104_5106del
NG_033050.1:g.230713_230715del
NG_008193.2:g.5104_5106del
NG_033050.2:g.230713_230715del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.34_36del (LHCGR) MANE Select	ENSP00000294954.6:p.Lys12del
ENST00000294954.11:c.34_36del (LHCGR)	ENSP00000294954.6:p.Lys12del
ENST00000401907.5:c.34_36del (LHCGR)	ENSP00000385406.1:p.Lys12del
ENST00000402114.6:c.3442-20643_3442-20641del (STON1-GTF2A1L)	ENSP00000385701.1:n.3442-20643_3442-20641del
ENST00000403273.5:c.34_36del (LHCGR)	ENSP00000385847.1:p.Lys12del
ENST00000405626.5:c.34_36del (LHCGR)	ENSP00000386033.1:p.Lys12del
ENST00000602369.3:c.34_36del	ENSP00000473498.1:p.Lys12del
NM_000233.3:c.34_36del (LHCGR)	NP_000224.2:p.Lys12del
NM_001198593.1:c.3442-20643_3442-20641del (STON1-GTF2A1L)	NP_001185522.1:n.3442-20643_3442-20641del
XM_011532828.1:c.34_36del (LHCGR)	XP_011531130.1:p.Lys12del
XM_011532829.1:c.34_36del (LHCGR)	XP_011531131.1:p.Lys12del
XM_011532830.1:c.34_36del (LHCGR)	XP_011531132.1:p.Lys12del
NM_000233.4:c.34_36del (LHCGR) MANE Select	NP_000224.2:p.Lys12del
NM_001198593.2:c.3442-20643_3442-20641del (STON1-GTF2A1L)	NP_001185522.1:n.3442-20643_3442-20641del