Canonical Allele Identifier: CA2658992085

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• gnomAD v4: 2-48688381-AATAGCATAGGTGATGGTGTGCCATCTTTCTAGAGTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688384_48688419del , CM000664.2:g.48688384_48688419del	GRCh38
NC_000002.11:g.48915523_48915558del , CM000664.1:g.48915523_48915558del	GRCh37
NC_000002.10:g.48769027_48769062del	NCBI36
NG_008193.1:g.72325_72360del
NG_033050.1:g.163460_163495del
NG_008193.2:g.72325_72360del
NG_033050.2:g.163460_163495del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1380_1415del (LHCGR) MANE Select	ENSP00000294954.6:p.Thr461_Ile472del
ENST00000294954.11:c.1380_1415del (LHCGR)	ENSP00000294954.6:p.Thr461_Ile472del
ENST00000401907.5:c.948-278_948-243del (LHCGR)	ENSP00000385406.1:n.948-278_948-243del
ENST00000402114.6:c.3441+16704_3441+16739del (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16704_3441+16739del
ENST00000403273.5:c.*124_*159del (LHCGR)	ENSP00000385847.1:n.*124_*159del
ENST00000405626.5:c.1299_1334del (LHCGR)	ENSP00000386033.1:p.Thr434_Ile445del
ENST00000508440.1:c.276+16704_276+16739del (GTF2A1L)	ENSP00000421474.1:n.276+16704_276+16739del
ENST00000602369.3:c.*220+5807_*220+5842del	ENSP00000473498.1:n.*220+5807_*220+5842del
NM_000233.3:c.1380_1415del (LHCGR)	NP_000224.2:p.Thr461_Ile472del
NM_001198593.1:c.3441+16704_3441+16739del (STON1-GTF2A1L)	NP_001185522.1:n.3441+16704_3441+16739del
XM_005264309.2:c.423_458del (LHCGR)	XP_005264366.1:p.Thr142_Ile153del
XM_006712015.2:c.450_485del (LHCGR)	XP_006712078.1:p.Thr151_Ile162del
XM_011532828.1:c.1305_1340del (LHCGR)	XP_011531130.1:p.Thr436_Ile447del
XM_011532829.1:c.1119_1154del (LHCGR)	XP_011531131.1:p.Thr374_Ile385del
XM_011532830.1:c.1038_1073del (LHCGR)	XP_011531132.1:p.Thr347_Ile358del
XM_011532831.1:c.744_779del (LHCGR)	XP_011531133.1:p.Thr249_Ile260del
XM_011532832.1:c.450_485del (LHCGR)	XP_011531134.1:p.Thr151_Ile162del
XM_011532833.1:c.450_485del (LHCGR)	XP_011531135.1:p.Thr151_Ile162del
XM_011532834.1:c.423_458del (LHCGR)	XP_011531136.1:p.Thr142_Ile153del
XM_005264309.3:c.423_458del (LHCGR)	XP_005264366.1:p.Thr142_Ile153del
XM_006712015.3:c.450_485del (LHCGR)	XP_006712078.1:p.Thr151_Ile162del
XM_011532834.2:c.423_458del (LHCGR)	XP_011531136.1:p.Thr142_Ile153del
XM_017004089.1:c.1125_1160del (LHCGR)	XP_016859578.1:p.Thr376_Ile387del
XM_017004090.1:c.744_779del (LHCGR)	XP_016859579.1:p.Thr249_Ile260del
NM_000233.4:c.1380_1415del (LHCGR) MANE Select	NP_000224.2:p.Thr461_Ile472del
NM_001198593.2:c.3441+16704_3441+16739del (STON1-GTF2A1L)	NP_001185522.1:n.3441+16704_3441+16739del