Canonical Allele Identifier: CA1248601077

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688316_48688317delinsGA , CM000664.2:g.48688316_48688317delinsGA	GRCh38
NC_000002.11:g.48915455_48915456delinsGA , CM000664.1:g.48915455_48915456delinsGA	GRCh37
NC_000002.10:g.48768959_48768960delinsGA	NCBI36
NG_008193.1:g.72425_72426delinsTC
NG_033050.1:g.163392_163393delinsGA
NG_008193.2:g.72425_72426delinsTC
NG_033050.2:g.163392_163393delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1480_1481delinsTC (LHCGR) MANE Select	ENSP00000294954.6:p.Ser494=
ENST00000294954.11:c.1480_1481delinsTC (LHCGR)	ENSP00000294954.6:p.Ser494=
ENST00000401907.5:c.948-178_948-177delinsTC (LHCGR)	ENSP00000385406.1:n.948-178_948-177delinsTC
ENST00000402114.6:c.3441+16636_3441+16637delinsGA (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16636_3441+16637delinsGA
ENST00000403273.5:c.*224_*225delinsTC (LHCGR)	ENSP00000385847.1:n.*224_*225delinsTC
ENST00000405626.5:c.1399_1400delinsTC (LHCGR)	ENSP00000386033.1:p.Ser467=
ENST00000508440.1:c.276+16636_276+16637delinsGA (GTF2A1L)	ENSP00000421474.1:n.276+16636_276+16637delinsGA
ENST00000602369.3:c.*220+5907_*220+5908delinsTC	ENSP00000473498.1:n.*220+5907_*220+5908delinsTC
NM_000233.3:c.1480_1481delinsTC (LHCGR)	NP_000224.2:p.Ser494=
NM_001198593.1:c.3441+16636_3441+16637delinsGA (STON1-GTF2A1L)	NP_001185522.1:n.3441+16636_3441+16637delinsGA
XM_005264309.2:c.523_524delinsTC (LHCGR)	XP_005264366.1:p.Ser175=
XM_006712015.2:c.550_551delinsTC (LHCGR)	XP_006712078.1:p.Ser184=
XM_011532828.1:c.1405_1406delinsTC (LHCGR)	XP_011531130.1:p.Ser469=
XM_011532829.1:c.1219_1220delinsTC (LHCGR)	XP_011531131.1:p.Ser407=
XM_011532830.1:c.1138_1139delinsTC (LHCGR)	XP_011531132.1:p.Ser380=
XM_011532831.1:c.844_845delinsTC (LHCGR)	XP_011531133.1:p.Ser282=
XM_011532832.1:c.550_551delinsTC (LHCGR)	XP_011531134.1:p.Ser184=
XM_011532833.1:c.550_551delinsTC (LHCGR)	XP_011531135.1:p.Ser184=
XM_011532834.1:c.523_524delinsTC (LHCGR)	XP_011531136.1:p.Ser175=
XM_005264309.3:c.523_524delinsTC (LHCGR)	XP_005264366.1:p.Ser175=
XM_006712015.3:c.550_551delinsTC (LHCGR)	XP_006712078.1:p.Ser184=
XM_011532834.2:c.523_524delinsTC (LHCGR)	XP_011531136.1:p.Ser175=
XM_017004089.1:c.1225_1226delinsTC (LHCGR)	XP_016859578.1:p.Ser409=
XM_017004090.1:c.844_845delinsTC (LHCGR)	XP_016859579.1:p.Ser282=
NM_000233.4:c.1480_1481delinsTC (LHCGR) MANE Select	NP_000224.2:p.Ser494=
NM_001198593.2:c.3441+16636_3441+16637delinsGA (STON1-GTF2A1L)	NP_001185522.1:n.3441+16636_3441+16637delinsGA