Canonical Allele Identifier: CA1248603939

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48694189_48694190delinsAC , CM000664.2:g.48694189_48694190delinsAC	GRCh38
NC_000002.11:g.48921328_48921329delinsAC , CM000664.1:g.48921328_48921329delinsAC	GRCh37
NC_000002.10:g.48774832_48774833delinsAC	NCBI36
NG_008193.1:g.66552_66553delinsGT
NG_033050.1:g.169265_169266delinsAC
NG_008193.2:g.66552_66553delinsGT
NG_033050.2:g.169265_169266delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.947+34_947+35delinsGT (LHCGR) MANE Select	ENSP00000294954.6:n.947+34_947+35delinsGT
ENST00000294954.11:c.947+34_947+35delinsGT (LHCGR)	ENSP00000294954.6:n.947+34_947+35delinsGT
ENST00000401907.5:c.947+34_947+35delinsGT (LHCGR)	ENSP00000385406.1:n.947+34_947+35delinsGT
ENST00000402114.6:c.3441+22509_3441+22510delinsAC (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+22509_3441+22510delinsAC
ENST00000403273.5:c.947+34_947+35delinsGT (LHCGR)	ENSP00000385847.1:n.947+34_947+35delinsGT
ENST00000405626.5:c.866+4425_866+4426delinsGT (LHCGR)	ENSP00000386033.1:n.866+4425_866+4426delinsGT
ENST00000508440.1:c.276+22509_276+22510delinsAC (GTF2A1L)	ENSP00000421474.1:n.276+22509_276+22510delinsAC
ENST00000602369.3:c.*220+34_*220+35delinsGT	ENSP00000473498.1:n.*220+34_*220+35delinsGT
NM_000233.3:c.947+34_947+35delinsGT (LHCGR)	NP_000224.2:n.947+34_947+35delinsGT
NM_001198593.1:c.3441+22509_3441+22510delinsAC (STON1-GTF2A1L)	NP_001185522.1:n.3441+22509_3441+22510delinsAC
XM_005264309.2:c.-11+51_-11+52delinsGT (LHCGR)	XP_005264366.1:n.-11+51_-11+52delinsGT
XM_006712015.2:c.-926_-925delinsGT (LHCGR)	XP_006712078.1:n.-926_-925delinsGT
XM_011532828.1:c.872+34_872+35delinsGT (LHCGR)	XP_011531130.1:n.872+34_872+35delinsGT
XM_011532829.1:c.686+34_686+35delinsGT (LHCGR)	XP_011531131.1:n.686+34_686+35delinsGT
XM_011532830.1:c.606-5341_606-5340delinsGT (LHCGR)	XP_011531132.1:n.606-5341_606-5340delinsGT
XM_011532831.1:c.311+34_311+35delinsGT (LHCGR)	XP_011531133.1:n.311+34_311+35delinsGT
XM_011532832.1:c.-493_-492delinsGT (LHCGR)	XP_011531134.1:n.-493_-492delinsGT
XM_011532833.1:c.-489_-488delinsGT (LHCGR)	XP_011531135.1:n.-489_-488delinsGT
XM_011532834.1:c.-295_-294delinsGT (LHCGR)	XP_011531136.1:n.-295_-294delinsGT
XM_005264309.3:c.-11+51_-11+52delinsGT (LHCGR)	XP_005264366.1:n.-11+51_-11+52delinsGT
XM_006712015.3:c.-926_-925delinsGT (LHCGR)	XP_006712078.1:n.-926_-925delinsGT
XM_011532834.2:c.-295_-294delinsGT (LHCGR)	XP_011531136.1:n.-295_-294delinsGT
XM_017004089.1:c.692+34_692+35delinsGT (LHCGR)	XP_016859578.1:n.692+34_692+35delinsGT
XM_017004090.1:c.311+34_311+35delinsGT (LHCGR)	XP_016859579.1:n.311+34_311+35delinsGT
NM_000233.4:c.947+34_947+35delinsGT (LHCGR) MANE Select	NP_000224.2:n.947+34_947+35delinsGT
NM_001198593.2:c.3441+22509_3441+22510delinsAC (STON1-GTF2A1L)	NP_001185522.1:n.3441+22509_3441+22510delinsAC