Canonical Allele Identifier: CA2749836836

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688258_48688259insT , CM000664.2:g.48688258_48688259insT	GRCh38
NC_000002.11:g.48915397_48915398insT , CM000664.1:g.48915397_48915398insT	GRCh37
NC_000002.10:g.48768901_48768902insT	NCBI36
NG_008193.1:g.72483_72484insA
NG_033050.1:g.163334_163335insT
NG_008193.2:g.72483_72484insA
NG_033050.2:g.163334_163335insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1538_1539insA (LHCGR) MANE Select	ENSP00000294954.6:p.Cys514LeufsTer?
ENST00000294954.11:c.1538_1539insA (LHCGR)	ENSP00000294954.6:p.Cys514LeufsTer?
ENST00000401907.5:c.948-120_948-119insA (LHCGR)	ENSP00000385406.1:n.948-120_948-119insA
ENST00000402114.6:c.3441+16578_3441+16579insT (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16578_3441+16579insT
ENST00000403273.5:c.*282_*283insA (LHCGR)	ENSP00000385847.1:n.*282_*283insA
ENST00000405626.5:c.1457_1458insA (LHCGR)	ENSP00000386033.1:p.Cys487LeufsTer?
ENST00000508440.1:c.276+16578_276+16579insT (GTF2A1L)	ENSP00000421474.1:n.276+16578_276+16579insT
ENST00000602369.3:c.*220+5965_*220+5966insA	ENSP00000473498.1:n.*220+5965_*220+5966insA
NM_000233.3:c.1538_1539insA (LHCGR)	NP_000224.2:p.Cys514LeufsTer?
NM_001198593.1:c.3441+16578_3441+16579insT (STON1-GTF2A1L)	NP_001185522.1:n.3441+16578_3441+16579insT
XM_005264309.2:c.581_582insA (LHCGR)	XP_005264366.1:p.Cys195LeufsTer?
XM_006712015.2:c.608_609insA (LHCGR)	XP_006712078.1:p.Cys204LeufsTer?
XM_011532828.1:c.1463_1464insA (LHCGR)	XP_011531130.1:p.Cys489LeufsTer?
XM_011532829.1:c.1277_1278insA (LHCGR)	XP_011531131.1:p.Cys427LeufsTer?
XM_011532830.1:c.1196_1197insA (LHCGR)	XP_011531132.1:p.Cys400LeufsTer?
XM_011532831.1:c.902_903insA (LHCGR)	XP_011531133.1:p.Cys302LeufsTer?
XM_011532832.1:c.608_609insA (LHCGR)	XP_011531134.1:p.Cys204LeufsTer?
XM_011532833.1:c.608_609insA (LHCGR)	XP_011531135.1:p.Cys204LeufsTer?
XM_011532834.1:c.581_582insA (LHCGR)	XP_011531136.1:p.Cys195LeufsTer?
XM_005264309.3:c.581_582insA (LHCGR)	XP_005264366.1:p.Cys195LeufsTer?
XM_006712015.3:c.608_609insA (LHCGR)	XP_006712078.1:p.Cys204LeufsTer?
XM_011532834.2:c.581_582insA (LHCGR)	XP_011531136.1:p.Cys195LeufsTer?
XM_017004089.1:c.1283_1284insA (LHCGR)	XP_016859578.1:p.Cys429LeufsTer?
XM_017004090.1:c.902_903insA (LHCGR)	XP_016859579.1:p.Cys302LeufsTer?
NM_000233.4:c.1538_1539insA (LHCGR) MANE Select	NP_000224.2:p.Cys514LeufsTer?
NM_001198593.2:c.3441+16578_3441+16579insT (STON1-GTF2A1L)	NP_001185522.1:n.3441+16578_3441+16579insT