Canonical Allele Identifier: CA2586969306

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688215_48688218del , CM000664.2:g.48688215_48688218del	GRCh38
NC_000002.11:g.48915354_48915357del , CM000664.1:g.48915354_48915357del	GRCh37
NC_000002.10:g.48768858_48768861del	NCBI36
NG_008193.1:g.72527_72530del
NG_033050.1:g.163291_163294del
NG_008193.2:g.72527_72530del
NG_033050.2:g.163291_163294del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1582_1585del (LHCGR) MANE Select	ENSP00000294954.6:p.Ile528Ter
ENST00000294954.11:c.1582_1585del (LHCGR)	ENSP00000294954.6:p.Ile528Ter
ENST00000401907.5:c.948-76_948-73del (LHCGR)	ENSP00000385406.1:n.948-76_948-73del
ENST00000402114.6:c.3441+16535_3441+16538del (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16535_3441+16538del
ENST00000403273.5:c.*326_*329del (LHCGR)	ENSP00000385847.1:n.*326_*329del
ENST00000405626.5:c.1501_1504del (LHCGR)	ENSP00000386033.1:p.Ile501Ter
ENST00000508440.1:c.276+16535_276+16538del (GTF2A1L)	ENSP00000421474.1:n.276+16535_276+16538del
ENST00000602369.3:c.*220+6009_*220+6012del	ENSP00000473498.1:n.*220+6009_*220+6012del
NM_000233.3:c.1582_1585del (LHCGR)	NP_000224.2:p.Ile528Ter
NM_001198593.1:c.3441+16535_3441+16538del (STON1-GTF2A1L)	NP_001185522.1:n.3441+16535_3441+16538del
XM_005264309.2:c.625_628del (LHCGR)	XP_005264366.1:p.Ile209Ter
XM_006712015.2:c.652_655del (LHCGR)	XP_006712078.1:p.Ile218Ter
XM_011532828.1:c.1507_1510del (LHCGR)	XP_011531130.1:p.Ile503Ter
XM_011532829.1:c.1321_1324del (LHCGR)	XP_011531131.1:p.Ile441Ter
XM_011532830.1:c.1240_1243del (LHCGR)	XP_011531132.1:p.Ile414Ter
XM_011532831.1:c.946_949del (LHCGR)	XP_011531133.1:p.Ile316Ter
XM_011532832.1:c.652_655del (LHCGR)	XP_011531134.1:p.Ile218Ter
XM_011532833.1:c.652_655del (LHCGR)	XP_011531135.1:p.Ile218Ter
XM_011532834.1:c.625_628del (LHCGR)	XP_011531136.1:p.Ile209Ter
XM_005264309.3:c.625_628del (LHCGR)	XP_005264366.1:p.Ile209Ter
XM_006712015.3:c.652_655del (LHCGR)	XP_006712078.1:p.Ile218Ter
XM_011532834.2:c.625_628del (LHCGR)	XP_011531136.1:p.Ile209Ter
XM_017004089.1:c.1327_1330del (LHCGR)	XP_016859578.1:p.Ile443Ter
XM_017004090.1:c.946_949del (LHCGR)	XP_016859579.1:p.Ile316Ter
NM_000233.4:c.1582_1585del (LHCGR) MANE Select	NP_000224.2:p.Ile528Ter
NM_001198593.2:c.3441+16535_3441+16538del (STON1-GTF2A1L)	NP_001185522.1:n.3441+16535_3441+16538del