Canonical Allele Identifier: CA2749836835

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688150_48688151insCCAAACACACCCAACAC , CM000664.2:g.48688150_48688151insCCAAACACACCCAACAC	GRCh38
NC_000002.11:g.48915289_48915290insCCAAACACACCCAACAC , CM000664.1:g.48915289_48915290insCCAAACACACCCAACAC	GRCh37
NC_000002.10:g.48768793_48768794insCCAAACACACCCAACAC	NCBI36
NG_008193.1:g.72591_72592insGTGTTGGGTGTGTTTGG
NG_033050.1:g.163226_163227insCCAAACACACCCAACAC
NG_008193.2:g.72591_72592insGTGTTGGGTGTGTTTGG
NG_033050.2:g.163226_163227insCCAAACACACCCAACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1646_1647insGTGTTGGGTGTGTTTGG (LHCGR) MANE Select	ENSP00000294954.6:p.Ile549MetfsTer16
ENST00000294954.11:c.1646_1647insGTGTTGGGTGTGTTTGG (LHCGR)	ENSP00000294954.6:p.Ile549MetfsTer16
ENST00000401907.5:c.948-12_948-11insGTGTTGGGTGTGTTTGG (LHCGR)	ENSP00000385406.1:n.948-12_948-11insGTGTTGGGTGTGTTTGG
ENST00000402114.6:c.3441+16470_3441+16471insCCAAACACACCCAACAC (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16470_3441+16471insCCAAACACACCCAACAC...
ENST00000403273.5:c.*390_*391insGTGTTGGGTGTGTTTGG (LHCGR)	ENSP00000385847.1:n.*390_*391insGTGTTGGGTGTGTTTGG
ENST00000405626.5:c.1565_1566insGTGTTGGGTGTGTTTGG (LHCGR)	ENSP00000386033.1:p.Ile522MetfsTer16
ENST00000508440.1:c.276+16470_276+16471insCCAAACACACCCAACAC (GTF2A1L)	ENSP00000421474.1:n.276+16470_276+16471insCCAAACACACCCAACAC
ENST00000602369.3:c.*220+6073_*220+6074insGTGTTGGGTGTGTTTGG	ENSP00000473498.1:n.*220+6073_*220+6074insGTGTTGGGTGTGTTTGG
NM_000233.3:c.1646_1647insGTGTTGGGTGTGTTTGG (LHCGR)	NP_000224.2:p.Ile549MetfsTer16
NM_001198593.1:c.3441+16470_3441+16471insCCAAACACACCCAACAC (STON1-GTF2A1L)	NP_001185522.1:n.3441+16470_3441+16471insCCAAACACACCCAACAC
XM_005264309.2:c.689_690insGTGTTGGGTGTGTTTGG (LHCGR)	XP_005264366.1:p.Ile230MetfsTer16
XM_006712015.2:c.716_717insGTGTTGGGTGTGTTTGG (LHCGR)	XP_006712078.1:p.Ile239MetfsTer16
XM_011532828.1:c.1571_1572insGTGTTGGGTGTGTTTGG (LHCGR)	XP_011531130.1:p.Ile524MetfsTer16
XM_011532829.1:c.1385_1386insGTGTTGGGTGTGTTTGG (LHCGR)	XP_011531131.1:p.Ile462MetfsTer16
XM_011532830.1:c.1304_1305insGTGTTGGGTGTGTTTGG (LHCGR)	XP_011531132.1:p.Ile435MetfsTer16
XM_011532831.1:c.1010_1011insGTGTTGGGTGTGTTTGG (LHCGR)	XP_011531133.1:p.Ile337MetfsTer16
XM_011532832.1:c.716_717insGTGTTGGGTGTGTTTGG (LHCGR)	XP_011531134.1:p.Ile239MetfsTer16
XM_011532833.1:c.716_717insGTGTTGGGTGTGTTTGG (LHCGR)	XP_011531135.1:p.Ile239MetfsTer16
XM_011532834.1:c.689_690insGTGTTGGGTGTGTTTGG (LHCGR)	XP_011531136.1:p.Ile230MetfsTer16
XM_005264309.3:c.689_690insGTGTTGGGTGTGTTTGG (LHCGR)	XP_005264366.1:p.Ile230MetfsTer16
XM_006712015.3:c.716_717insGTGTTGGGTGTGTTTGG (LHCGR)	XP_006712078.1:p.Ile239MetfsTer16
XM_011532834.2:c.689_690insGTGTTGGGTGTGTTTGG (LHCGR)	XP_011531136.1:p.Ile230MetfsTer16
XM_017004089.1:c.1391_1392insGTGTTGGGTGTGTTTGG (LHCGR)	XP_016859578.1:p.Ile464MetfsTer16
XM_017004090.1:c.1010_1011insGTGTTGGGTGTGTTTGG (LHCGR)	XP_016859579.1:p.Ile337MetfsTer16
NM_000233.4:c.1646_1647insGTGTTGGGTGTGTTTGG (LHCGR) MANE Select	NP_000224.2:p.Ile549MetfsTer16
NM_001198593.2:c.3441+16470_3441+16471insCCAAACACACCCAACAC (STON1-GTF2A1L)	NP_001185522.1:n.3441+16470_3441+16471insCCAAACACACCCAACAC