Canonical Allele Identifier: CA2749836834

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688135_48688139del , CM000664.2:g.48688135_48688139del	GRCh38
NC_000002.11:g.48915274_48915278del , CM000664.1:g.48915274_48915278del	GRCh37
NC_000002.10:g.48768778_48768782del	NCBI36
NG_008193.1:g.72603_72607del
NG_033050.1:g.163211_163215del
NG_008193.2:g.72603_72607del
NG_033050.2:g.163211_163215del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1658_1662del (LHCGR) MANE Select	ENSP00000294954.6:p.Val553GlufsTer9
ENST00000294954.11:c.1658_1662del (LHCGR)	ENSP00000294954.6:p.Val553GlufsTer9
ENST00000401907.5:c.948_952del (LHCGR)	ENSP00000385406.1:p.Ser317ThrfsTer4
ENST00000402114.6:c.3441+16455_3441+16459del (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16455_3441+16459del
ENST00000403273.5:c.*402_*406del (LHCGR)	ENSP00000385847.1:n.*402_*406del
ENST00000405626.5:c.1577_1581del (LHCGR)	ENSP00000386033.1:p.Val526GlufsTer9
ENST00000508440.1:c.276+16455_276+16459del (GTF2A1L)	ENSP00000421474.1:n.276+16455_276+16459del
ENST00000602369.3:c.*220+6085_*220+6089del	ENSP00000473498.1:n.*220+6085_*220+6089del
NM_000233.3:c.1658_1662del (LHCGR)	NP_000224.2:p.Val553GlufsTer9
NM_001198593.1:c.3441+16455_3441+16459del (STON1-GTF2A1L)	NP_001185522.1:n.3441+16455_3441+16459del
XM_005264309.2:c.701_705del (LHCGR)	XP_005264366.1:p.Val234GlufsTer9
XM_006712015.2:c.728_732del (LHCGR)	XP_006712078.1:p.Val243GlufsTer9
XM_011532828.1:c.1583_1587del (LHCGR)	XP_011531130.1:p.Val528GlufsTer9
XM_011532829.1:c.1397_1401del (LHCGR)	XP_011531131.1:p.Val466GlufsTer9
XM_011532830.1:c.1316_1320del (LHCGR)	XP_011531132.1:p.Val439GlufsTer9
XM_011532831.1:c.1022_1026del (LHCGR)	XP_011531133.1:p.Val341GlufsTer9
XM_011532832.1:c.728_732del (LHCGR)	XP_011531134.1:p.Val243GlufsTer9
XM_011532833.1:c.728_732del (LHCGR)	XP_011531135.1:p.Val243GlufsTer9
XM_011532834.1:c.701_705del (LHCGR)	XP_011531136.1:p.Val234GlufsTer9
XM_005264309.3:c.701_705del (LHCGR)	XP_005264366.1:p.Val234GlufsTer9
XM_006712015.3:c.728_732del (LHCGR)	XP_006712078.1:p.Val243GlufsTer9
XM_011532834.2:c.701_705del (LHCGR)	XP_011531136.1:p.Val234GlufsTer9
XM_017004089.1:c.1403_1407del (LHCGR)	XP_016859578.1:p.Val468GlufsTer9
XM_017004090.1:c.1022_1026del (LHCGR)	XP_016859579.1:p.Val341GlufsTer9
NM_000233.4:c.1658_1662del (LHCGR) MANE Select	NP_000224.2:p.Val553GlufsTer9
NM_001198593.2:c.3441+16455_3441+16459del (STON1-GTF2A1L)	NP_001185522.1:n.3441+16455_3441+16459del