Canonical Allele Identifier: CA1248636856

Gene: LHCGR STON1-GTF2A1L

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48755716_48755718delinsCCT , CM000664.2:g.48755716_48755718delinsCCT	GRCh38
NC_000002.11:g.48982855_48982857delinsCCT , CM000664.1:g.48982855_48982857delinsCCT	GRCh37
NC_000002.10:g.48836359_48836361delinsCCT	NCBI36
NG_008193.1:g.5024_5026delinsAGG
NG_033050.1:g.230792_230794delinsCCT
NG_008193.2:g.5024_5026delinsAGG
NG_033050.2:g.230792_230794delinsCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.-47_-45delinsAGG (LHCGR) MANE Select	ENSP00000294954.6:n.-47_-45delinsAGG
ENST00000401907.5:c.-47_-45delinsAGG (LHCGR)	ENSP00000385406.1:n.-47_-45delinsAGG
ENST00000402114.6:c.3442-20564_3442-20562delinsCCT (STON1-GTF2A1L)	ENSP00000385701.1:n.3442-20564_3442-20562delinsCCT
ENST00000403273.5:c.-47_-45delinsAGG (LHCGR)	ENSP00000385847.1:n.-47_-45delinsAGG
ENST00000602369.3:c.-47_-45delinsAGG	ENSP00000473498.1:n.-47_-45delinsAGG
NM_000233.3:c.-47_-45delinsAGG (LHCGR)	NP_000224.2:n.-47_-45delinsAGG
NM_001198593.1:c.3442-20564_3442-20562delinsCCT (STON1-GTF2A1L)	NP_001185522.1:n.3442-20564_3442-20562delinsCCT
XM_011532828.1:c.-47_-45delinsAGG (LHCGR)	XP_011531130.1:n.-47_-45delinsAGG
XM_011532829.1:c.-47_-45delinsAGG (LHCGR)	XP_011531131.1:n.-47_-45delinsAGG
XM_011532830.1:c.-47_-45delinsAGG (LHCGR)	XP_011531132.1:n.-47_-45delinsAGG
NM_000233.4:c.-47_-45delinsAGG (LHCGR) MANE Select	NP_000224.2:n.-47_-45delinsAGG
NM_001198593.2:c.3442-20564_3442-20562delinsCCT (STON1-GTF2A1L)	NP_001185522.1:n.3442-20564_3442-20562delinsCCT