Canonical Allele Identifier: CA2658995119

Gene: LHCGR STON1-GTF2A1L

Linked Data

• gnomAD v4: 2-48755672-GGCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48755674_48755676del , CM000664.2:g.48755674_48755676del	GRCh38
NC_000002.11:g.48982813_48982815del , CM000664.1:g.48982813_48982815del	GRCh37
NC_000002.10:g.48836317_48836319del	NCBI36
NG_008193.1:g.5067_5069del
NG_033050.1:g.230750_230752del
NG_008193.2:g.5067_5069del
NG_033050.2:g.230750_230752del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.-4_-2del (LHCGR) MANE Select	ENSP00000294954.6:n.-4_-2del
ENST00000294954.11:c.-4_-2del (LHCGR)	ENSP00000294954.6:n.-4_-2del
ENST00000401907.5:c.-4_-2del (LHCGR)	ENSP00000385406.1:n.-4_-2del
ENST00000402114.6:c.3442-20606_3442-20604del (STON1-GTF2A1L)	ENSP00000385701.1:n.3442-20606_3442-20604del
ENST00000403273.5:c.-4_-2del (LHCGR)	ENSP00000385847.1:n.-4_-2del
ENST00000602369.3:c.-4_-2del	ENSP00000473498.1:n.-4_-2del
NM_000233.3:c.-4_-2del (LHCGR)	NP_000224.2:n.-4_-2del
NM_001198593.1:c.3442-20606_3442-20604del (STON1-GTF2A1L)	NP_001185522.1:n.3442-20606_3442-20604del
XM_011532828.1:c.-4_-2del (LHCGR)	XP_011531130.1:n.-4_-2del
XM_011532829.1:c.-4_-2del (LHCGR)	XP_011531131.1:n.-4_-2del
XM_011532830.1:c.-4_-2del (LHCGR)	XP_011531132.1:n.-4_-2del
NM_000233.4:c.-4_-2del (LHCGR) MANE Select	NP_000224.2:n.-4_-2del
NM_001198593.2:c.3442-20606_3442-20604del (STON1-GTF2A1L)	NP_001185522.1:n.3442-20606_3442-20604del