Canonical Allele Identifier: CA2749836831

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688115_48688116insCGGC , CM000664.2:g.48688115_48688116insCGGC	GRCh38
NC_000002.11:g.48915254_48915255insCGGC , CM000664.1:g.48915254_48915255insCGGC	GRCh37
NC_000002.10:g.48768758_48768759insCGGC	NCBI36
NG_008193.1:g.72626_72627insGCCG
NG_033050.1:g.163191_163192insCGGC
NG_008193.2:g.72626_72627insGCCG
NG_033050.2:g.163191_163192insCGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1681_1682insGCCG (LHCGR) MANE Select	ENSP00000294954.6:p.Thr561SerfsTer4
ENST00000294954.11:c.1681_1682insGCCG (LHCGR)	ENSP00000294954.6:p.Thr561SerfsTer4
ENST00000401907.5:c.971_972insGCCG (LHCGR)	ENSP00000385406.1:p.Tyr324Ter
ENST00000402114.6:c.3441+16435_3441+16436insCGGC (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16435_3441+16436insCGGC
ENST00000403273.5:c.*425_*426insGCCG (LHCGR)	ENSP00000385847.1:n.*425_*426insGCCG
ENST00000405626.5:c.1600_1601insGCCG (LHCGR)	ENSP00000386033.1:p.Thr534SerfsTer4
ENST00000508440.1:c.276+16435_276+16436insCGGC (GTF2A1L)	ENSP00000421474.1:n.276+16435_276+16436insCGGC
ENST00000602369.3:c.*220+6108_*220+6109insGCCG	ENSP00000473498.1:n.*220+6108_*220+6109insGCCG
NM_000233.3:c.1681_1682insGCCG (LHCGR)	NP_000224.2:p.Thr561SerfsTer4
NM_001198593.1:c.3441+16435_3441+16436insCGGC (STON1-GTF2A1L)	NP_001185522.1:n.3441+16435_3441+16436insCGGC
XM_005264309.2:c.724_725insGCCG (LHCGR)	XP_005264366.1:p.Thr242SerfsTer4
XM_006712015.2:c.751_752insGCCG (LHCGR)	XP_006712078.1:p.Thr251SerfsTer4
XM_011532828.1:c.1606_1607insGCCG (LHCGR)	XP_011531130.1:p.Thr536SerfsTer4
XM_011532829.1:c.1420_1421insGCCG (LHCGR)	XP_011531131.1:p.Thr474SerfsTer4
XM_011532830.1:c.1339_1340insGCCG (LHCGR)	XP_011531132.1:p.Thr447SerfsTer4
XM_011532831.1:c.1045_1046insGCCG (LHCGR)	XP_011531133.1:p.Thr349SerfsTer4
XM_011532832.1:c.751_752insGCCG (LHCGR)	XP_011531134.1:p.Thr251SerfsTer4
XM_011532833.1:c.751_752insGCCG (LHCGR)	XP_011531135.1:p.Thr251SerfsTer4
XM_011532834.1:c.724_725insGCCG (LHCGR)	XP_011531136.1:p.Thr242SerfsTer4
XM_005264309.3:c.724_725insGCCG (LHCGR)	XP_005264366.1:p.Thr242SerfsTer4
XM_006712015.3:c.751_752insGCCG (LHCGR)	XP_006712078.1:p.Thr251SerfsTer4
XM_011532834.2:c.724_725insGCCG (LHCGR)	XP_011531136.1:p.Thr242SerfsTer4
XM_017004089.1:c.1426_1427insGCCG (LHCGR)	XP_016859578.1:p.Thr476SerfsTer4
XM_017004090.1:c.1045_1046insGCCG (LHCGR)	XP_016859579.1:p.Thr349SerfsTer4
NM_000233.4:c.1681_1682insGCCG (LHCGR) MANE Select	NP_000224.2:p.Thr561SerfsTer4
NM_001198593.2:c.3441+16435_3441+16436insCGGC (STON1-GTF2A1L)	NP_001185522.1:n.3441+16435_3441+16436insCGGC