Canonical Allele Identifier: CA1248601020

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688176_48688179delinsTGAA , CM000664.2:g.48688176_48688179delinsTGAA	GRCh38
NC_000002.11:g.48915315_48915318delinsTGAA , CM000664.1:g.48915315_48915318delinsTGAA	GRCh37
NC_000002.10:g.48768819_48768822delinsTGAA	NCBI36
NG_008193.1:g.72563_72566delinsTTCA
NG_033050.1:g.163252_163255delinsTGAA
NG_008193.2:g.72563_72566delinsTTCA
NG_033050.2:g.163252_163255delinsTGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1618_1621delinsTTCA (LHCGR) MANE Select	ENSP00000294954.6:p.Phe540=
ENST00000294954.11:c.1618_1621delinsTTCA (LHCGR)	ENSP00000294954.6:p.Phe540=
ENST00000401907.5:c.948-40_948-37delinsTTCA (LHCGR)	ENSP00000385406.1:n.948-40_948-37delinsTTCA
ENST00000402114.6:c.3441+16496_3441+16499delinsTGAA (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16496_3441+16499delinsTGAA
ENST00000403273.5:c.*362_*365delinsTTCA (LHCGR)	ENSP00000385847.1:n.*362_*365delinsTTCA
ENST00000405626.5:c.1537_1540delinsTTCA (LHCGR)	ENSP00000386033.1:p.Phe513=
ENST00000508440.1:c.276+16496_276+16499delinsTGAA (GTF2A1L)	ENSP00000421474.1:n.276+16496_276+16499delinsTGAA
ENST00000602369.3:c.*220+6045_*220+6048delinsTTCA	ENSP00000473498.1:n.*220+6045_*220+6048delinsTTCA
NM_000233.3:c.1618_1621delinsTTCA (LHCGR)	NP_000224.2:p.Phe540=
NM_001198593.1:c.3441+16496_3441+16499delinsTGAA (STON1-GTF2A1L)	NP_001185522.1:n.3441+16496_3441+16499delinsTGAA
XM_005264309.2:c.661_664delinsTTCA (LHCGR)	XP_005264366.1:p.Phe221=
XM_006712015.2:c.688_691delinsTTCA (LHCGR)	XP_006712078.1:p.Phe230=
XM_011532828.1:c.1543_1546delinsTTCA (LHCGR)	XP_011531130.1:p.Phe515=
XM_011532829.1:c.1357_1360delinsTTCA (LHCGR)	XP_011531131.1:p.Phe453=
XM_011532830.1:c.1276_1279delinsTTCA (LHCGR)	XP_011531132.1:p.Phe426=
XM_011532831.1:c.982_985delinsTTCA (LHCGR)	XP_011531133.1:p.Phe328=
XM_011532832.1:c.688_691delinsTTCA (LHCGR)	XP_011531134.1:p.Phe230=
XM_011532833.1:c.688_691delinsTTCA (LHCGR)	XP_011531135.1:p.Phe230=
XM_011532834.1:c.661_664delinsTTCA (LHCGR)	XP_011531136.1:p.Phe221=
XM_005264309.3:c.661_664delinsTTCA (LHCGR)	XP_005264366.1:p.Phe221=
XM_006712015.3:c.688_691delinsTTCA (LHCGR)	XP_006712078.1:p.Phe230=
XM_011532834.2:c.661_664delinsTTCA (LHCGR)	XP_011531136.1:p.Phe221=
XM_017004089.1:c.1363_1366delinsTTCA (LHCGR)	XP_016859578.1:p.Phe455=
XM_017004090.1:c.982_985delinsTTCA (LHCGR)	XP_016859579.1:p.Phe328=
NM_000233.4:c.1618_1621delinsTTCA (LHCGR) MANE Select	NP_000224.2:p.Phe540=
NM_001198593.2:c.3441+16496_3441+16499delinsTGAA (STON1-GTF2A1L)	NP_001185522.1:n.3441+16496_3441+16499delinsTGAA