Canonical Allele Identifier: CA1248600892

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48687883_48687884delinsCA , CM000664.2:g.48687883_48687884delinsCA	GRCh38
NC_000002.11:g.48915022_48915023delinsCA , CM000664.1:g.48915022_48915023delinsCA	GRCh37
NC_000002.10:g.48768526_48768527delinsCA	NCBI36
NG_008193.1:g.72858_72859delinsTG
NG_033050.1:g.162959_162960delinsCA
NG_008193.2:g.72858_72859delinsTG
NG_033050.2:g.162959_162960delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1913_1914delinsTG (LHCGR) MANE Select	ENSP00000294954.6:p.Leu638=
ENST00000294954.11:c.1913_1914delinsTG (LHCGR)	ENSP00000294954.6:p.Leu638=
ENST00000401907.5:c.*225_*226delinsTG (LHCGR)	ENSP00000385406.1:n.*225_*226delinsTG
ENST00000402114.6:c.3441+16203_3441+16204delinsCA (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16203_3441+16204delinsCA
ENST00000403273.5:c.*657_*658delinsTG (LHCGR)	ENSP00000385847.1:n.*657_*658delinsTG
ENST00000405626.5:c.1832_1833delinsTG (LHCGR)	ENSP00000386033.1:p.Leu611=
ENST00000508440.1:c.276+16203_276+16204delinsCA (GTF2A1L)	ENSP00000421474.1:n.276+16203_276+16204delinsCA
ENST00000602369.3:c.*220+6340_*220+6341delinsTG	ENSP00000473498.1:n.*220+6340_*220+6341delinsTG
NM_000233.3:c.1913_1914delinsTG (LHCGR)	NP_000224.2:p.Leu638=
NM_001198593.1:c.3441+16203_3441+16204delinsCA (STON1-GTF2A1L)	NP_001185522.1:n.3441+16203_3441+16204delinsCA
XM_005264309.2:c.956_957delinsTG (LHCGR)	XP_005264366.1:p.Leu319=
XM_006712015.2:c.983_984delinsTG (LHCGR)	XP_006712078.1:p.Leu328=
XM_011532828.1:c.1838_1839delinsTG (LHCGR)	XP_011531130.1:p.Leu613=
XM_011532829.1:c.1652_1653delinsTG (LHCGR)	XP_011531131.1:p.Leu551=
XM_011532830.1:c.1571_1572delinsTG (LHCGR)	XP_011531132.1:p.Leu524=
XM_011532831.1:c.1277_1278delinsTG (LHCGR)	XP_011531133.1:p.Leu426=
XM_011532832.1:c.983_984delinsTG (LHCGR)	XP_011531134.1:p.Leu328=
XM_011532833.1:c.983_984delinsTG (LHCGR)	XP_011531135.1:p.Leu328=
XM_011532834.1:c.956_957delinsTG (LHCGR)	XP_011531136.1:p.Leu319=
XM_005264309.3:c.956_957delinsTG (LHCGR)	XP_005264366.1:p.Leu319=
XM_006712015.3:c.983_984delinsTG (LHCGR)	XP_006712078.1:p.Leu328=
XM_011532834.2:c.956_957delinsTG (LHCGR)	XP_011531136.1:p.Leu319=
XM_017004089.1:c.1658_1659delinsTG (LHCGR)	XP_016859578.1:p.Leu553=
XM_017004090.1:c.1277_1278delinsTG (LHCGR)	XP_016859579.1:p.Leu426=
NM_000233.4:c.1913_1914delinsTG (LHCGR) MANE Select	NP_000224.2:p.Leu638=
NM_001198593.2:c.3441+16203_3441+16204delinsCA (STON1-GTF2A1L)	NP_001185522.1:n.3441+16203_3441+16204delinsCA