Canonical Allele Identifier: CA2658992220

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• gnomAD v4: 2-48694162-GATA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48694167_48694169del , CM000664.2:g.48694167_48694169del	GRCh38
NC_000002.11:g.48921306_48921308del , CM000664.1:g.48921306_48921308del	GRCh37
NC_000002.10:g.48774810_48774812del	NCBI36
NG_008193.1:g.66577_66579del
NG_033050.1:g.169243_169245del
NG_008193.2:g.66577_66579del
NG_033050.2:g.169243_169245del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.947+59_947+61del (LHCGR) MANE Select	ENSP00000294954.6:n.947+59_947+61del
ENST00000294954.11:c.947+59_947+61del (LHCGR)	ENSP00000294954.6:n.947+59_947+61del
ENST00000401907.5:c.947+59_947+61del (LHCGR)	ENSP00000385406.1:n.947+59_947+61del
ENST00000402114.6:c.3441+22487_3441+22489del (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+22487_3441+22489del
ENST00000403273.5:c.947+59_947+61del (LHCGR)	ENSP00000385847.1:n.947+59_947+61del
ENST00000405626.5:c.866+4450_866+4452del (LHCGR)	ENSP00000386033.1:n.866+4450_866+4452del
ENST00000508440.1:c.276+22487_276+22489del (GTF2A1L)	ENSP00000421474.1:n.276+22487_276+22489del
ENST00000602369.3:c.*220+59_*220+61del	ENSP00000473498.1:n.*220+59_*220+61del
NM_000233.3:c.947+59_947+61del (LHCGR)	NP_000224.2:n.947+59_947+61del
NM_001198593.1:c.3441+22487_3441+22489del (STON1-GTF2A1L)	NP_001185522.1:n.3441+22487_3441+22489del
XM_005264309.2:c.-11+76_-11+78del (LHCGR)	XP_005264366.1:n.-11+76_-11+78del
XM_006712015.2:c.-901_-899del (LHCGR)	XP_006712078.1:n.-901_-899del
XM_011532828.1:c.872+59_872+61del (LHCGR)	XP_011531130.1:n.872+59_872+61del
XM_011532829.1:c.686+59_686+61del (LHCGR)	XP_011531131.1:n.686+59_686+61del
XM_011532830.1:c.606-5316_606-5314del (LHCGR)	XP_011531132.1:n.606-5316_606-5314del
XM_011532831.1:c.311+59_311+61del (LHCGR)	XP_011531133.1:n.311+59_311+61del
XM_011532832.1:c.-468_-466del (LHCGR)	XP_011531134.1:n.-468_-466del
XM_011532833.1:c.-464_-462del (LHCGR)	XP_011531135.1:n.-464_-462del
XM_011532834.1:c.-270_-268del (LHCGR)	XP_011531136.1:n.-270_-268del
XM_005264309.3:c.-11+76_-11+78del (LHCGR)	XP_005264366.1:n.-11+76_-11+78del
XM_006712015.3:c.-901_-899del (LHCGR)	XP_006712078.1:n.-901_-899del
XM_011532834.2:c.-270_-268del (LHCGR)	XP_011531136.1:n.-270_-268del
XM_017004089.1:c.692+59_692+61del (LHCGR)	XP_016859578.1:n.692+59_692+61del
XM_017004090.1:c.311+59_311+61del (LHCGR)	XP_016859579.1:n.311+59_311+61del
NM_000233.4:c.947+59_947+61del (LHCGR) MANE Select	NP_000224.2:n.947+59_947+61del
NM_001198593.2:c.3441+22487_3441+22489del (STON1-GTF2A1L)	NP_001185522.1:n.3441+22487_3441+22489del