Canonical Allele Identifier: CA1248636719
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48755513_48755514delinsTC , CM000664.2:g.48755513_48755514delinsTC GRCh38
NC_000002.11:g.48982652_48982653delinsTC , CM000664.1:g.48982652_48982653delinsTC GRCh37
NC_000002.10:g.48836156_48836157delinsTC NCBI36
NG_008193.1:g.5228_5229delinsGA
NG_033050.1:g.230589_230590delinsTC
NG_008193.2:g.5228_5229delinsGA
NG_033050.2:g.230589_230590delinsTC

Transcript Alleles

HGVS Amino-acid change
ENST00000294954.12:c.158_159delinsGA (LHCGR) MANE Select ENSP00000294954.6:p.Arg53=
ENST00000294954.11:c.158_159delinsGA (LHCGR) ENSP00000294954.6:p.Arg53=
ENST00000401907.5:c.158_159delinsGA (LHCGR) ENSP00000385406.1:p.Arg53=
ENST00000402114.6:c.3442-20767_3442-20766delinsTC (STON1-GTF2A1L) ENSP00000385701.1:n.3442-20767_3442-20766delinsTC
ENST00000403273.5:c.158_159delinsGA (LHCGR) ENSP00000385847.1:p.Arg53=
ENST00000405626.5:c.158_159delinsGA (LHCGR) ENSP00000386033.1:p.Arg53=
ENST00000428232.2:c.56_57delinsGA (LHCGR) ENSP00000403748.1:p.Arg19=
ENST00000602369.3:c.158_159delinsGA ENSP00000473498.1:p.Arg53=
NM_000233.3:c.158_159delinsGA (LHCGR) NP_000224.2:p.Arg53=
NM_001198593.1:c.3442-20767_3442-20766delinsTC (STON1-GTF2A1L) NP_001185522.1:n.3442-20767_3442-20766delinsTC
XM_011532828.1:c.158_159delinsGA (LHCGR) XP_011531130.1:p.Arg53=
XM_011532829.1:c.158_159delinsGA (LHCGR) XP_011531131.1:p.Arg53=
XM_011532830.1:c.158_159delinsGA (LHCGR) XP_011531132.1:p.Arg53=
NM_000233.4:c.158_159delinsGA (LHCGR) MANE Select NP_000224.2:p.Arg53=
NM_001198593.2:c.3442-20767_3442-20766delinsTC (STON1-GTF2A1L) NP_001185522.1:n.3442-20767_3442-20766delinsTC