Canonical Allele Identifier: CA1248601084

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• dbSNP Id: rs1680012699

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688330_48688331insGATT , CM000664.2:g.48688330_48688331insGATT	GRCh38
NC_000002.11:g.48915469_48915470insGATT , CM000664.1:g.48915469_48915470insGATT	GRCh37
NC_000002.10:g.48768973_48768974insGATT	NCBI36
NG_008193.1:g.72412_72413insATCA
NG_033050.1:g.163406_163407insGATT
NG_008193.2:g.72412_72413insATCA
NG_033050.2:g.163406_163407insGATT

Transcript Alleles

HGVS	Amino-acid change
ENST00000294954.12:c.1467_1468insATCA (LHCGR) MANE Select	ENSP00000294954.6:p.Gly490IlefsTer?
ENST00000294954.11:c.1467_1468insATCA (LHCGR)	ENSP00000294954.6:p.Gly490IlefsTer?
ENST00000401907.5:c.948-191_948-190insATCA (LHCGR)	ENSP00000385406.1:n.948-191_948-190insATC...
ENST00000402114.6:c.3441+16650_3441+16651insGATT (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16650_3441+16651...
ENST00000403273.5:c.*211_*212insATCA (LHCGR)	ENSP00000385847.1:n.*211_*212insATCA
ENST00000405626.5:c.1386_1387insATCA (LHCGR)	ENSP00000386033.1:p.Gly463IlefsTer?
ENST00000508440.1:c.276+16650_276+16651insGATT (GTF2A1L)	ENSP00000421474.1:n.276+16650_276+16651in...
ENST00000602369.3:c.*220+5894_*220+5895insATCA	ENSP00000473498.1:n.*220+5894_*220+5895in...
NM_000233.3:c.1467_1468insATCA (LHCGR)	NP_000224.2:p.Gly490IlefsTer?
NM_001198593.1:c.3441+16650_3441+16651insGATT (STON1-GTF2A1L)	NP_001185522.1:n.3441+16650_3441+16651ins...
XM_005264309.2:c.510_511insATCA (LHCGR)	XP_005264366.1:p.Gly171IlefsTer?
XM_006712015.2:c.537_538insATCA (LHCGR)	XP_006712078.1:p.Gly180IlefsTer?
XM_011532828.1:c.1392_1393insATCA (LHCGR)	XP_011531130.1:p.Gly465IlefsTer?
XM_011532829.1:c.1206_1207insATCA (LHCGR)	XP_011531131.1:p.Gly403IlefsTer?
XM_011532830.1:c.1125_1126insATCA (LHCGR)	XP_011531132.1:p.Gly376IlefsTer?
XM_011532831.1:c.831_832insATCA (LHCGR)	XP_011531133.1:p.Gly278IlefsTer?
XM_011532832.1:c.537_538insATCA (LHCGR)	XP_011531134.1:p.Gly180IlefsTer?
XM_011532833.1:c.537_538insATCA (LHCGR)	XP_011531135.1:p.Gly180IlefsTer?
XM_011532834.1:c.510_511insATCA (LHCGR)	XP_011531136.1:p.Gly171IlefsTer?
XM_005264309.3:c.510_511insATCA (LHCGR)	XP_005264366.1:p.Gly171IlefsTer?
XM_006712015.3:c.537_538insATCA (LHCGR)	XP_006712078.1:p.Gly180IlefsTer?
XM_011532834.2:c.510_511insATCA (LHCGR)	XP_011531136.1:p.Gly171IlefsTer?
XM_017004089.1:c.1212_1213insATCA (LHCGR)	XP_016859578.1:p.Gly405IlefsTer?
XM_017004090.1:c.831_832insATCA (LHCGR)	XP_016859579.1:p.Gly278IlefsTer?
NM_000233.4:c.1467_1468insATCA (LHCGR) MANE Select	NP_000224.2:p.Gly490IlefsTer?
NM_001198593.2:c.3441+16650_3441+16651insGATT (STON1-GTF2A1L)	NP_001185522.1:n.3441+16650_3441+16651ins...