Canonical Allele Identifier: CA2749836829

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48687654_48687657del , CM000664.2:g.48687654_48687657del	GRCh38
NC_000002.11:g.48914793_48914796del , CM000664.1:g.48914793_48914796del	GRCh37
NC_000002.10:g.48768297_48768300del	NCBI36
NG_008193.1:g.73085_73088del
NG_033050.1:g.162730_162733del
NG_008193.2:g.73085_73088del
NG_033050.2:g.162730_162733del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.*40_*43del (LHCGR) MANE Select	ENSP00000294954.6:n.*40_*43del
ENST00000294954.11:c.*40_*43del (LHCGR)	ENSP00000294954.6:n.*40_*43del
ENST00000402114.6:c.3441+15974_3441+15977del (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+15974_3441+15977del
ENST00000405626.5:c.2059_2062del (LHCGR)	ENSP00000386033.1:n.2059_2062del
ENST00000508440.1:c.276+15974_276+15977del (GTF2A1L)	ENSP00000421474.1:n.276+15974_276+15977del
ENST00000602369.3:c.*220+6567_*220+6570del	ENSP00000473498.1:n.*220+6567_*220+6570del
NM_000233.3:c.*40_*43del (LHCGR)	NP_000224.2:n.*40_*43del
NM_001198593.1:c.3441+15974_3441+15977del (STON1-GTF2A1L)	NP_001185522.1:n.3441+15974_3441+15977del
XM_005264309.2:c.*40_*43del (LHCGR)	XP_005264366.1:n.*40_*43del
XM_006712015.2:c.*40_*43del (LHCGR)	XP_006712078.1:n.*40_*43del
XM_011532828.1:c.*40_*43del (LHCGR)	XP_011531130.1:n.*40_*43del
XM_011532829.1:c.*40_*43del (LHCGR)	XP_011531131.1:n.*40_*43del
XM_011532830.1:c.*40_*43del (LHCGR)	XP_011531132.1:n.*40_*43del
XM_011532831.1:c.*40_*43del (LHCGR)	XP_011531133.1:n.*40_*43del
XM_011532832.1:c.*40_*43del (LHCGR)	XP_011531134.1:n.*40_*43del
XM_011532833.1:c.*40_*43del (LHCGR)	XP_011531135.1:n.*40_*43del
XM_011532834.1:c.*40_*43del (LHCGR)	XP_011531136.1:n.*40_*43del
XM_005264309.3:c.*40_*43del (LHCGR)	XP_005264366.1:n.*40_*43del
XM_006712015.3:c.*40_*43del (LHCGR)	XP_006712078.1:n.*40_*43del
XM_011532834.2:c.*40_*43del (LHCGR)	XP_011531136.1:n.*40_*43del
XM_017004089.1:c.*40_*43del (LHCGR)	XP_016859578.1:n.*40_*43del
XM_017004090.1:c.*40_*43del (LHCGR)	XP_016859579.1:n.*40_*43del
NM_000233.4:c.*40_*43del (LHCGR) MANE Select	NP_000224.2:n.*40_*43del
NM_001198593.2:c.3441+15974_3441+15977del (STON1-GTF2A1L)	NP_001185522.1:n.3441+15974_3441+15977del