Canonical Allele Identifier: CA2580067086

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• ClinVar Variation Id: 14404
• ClinVar RCV Id: RCV000015485

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48691018_48697101del , CM000664.2:g.48691018_48697101del	GRCh38
NC_000002.11:g.48918157_48924240del , CM000664.1:g.48918157_48924240del	GRCh37
NC_000002.10:g.48771661_48777744del	NCBI36
NG_008193.1:g.63642_69725del
NG_033050.1:g.166094_172177del
NG_008193.2:g.63642_69725del
NG_033050.2:g.166094_172177del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.866+1515_948-2168del (LHCGR)
ENST00000294954.11:c.866+1515_948-2168del (LHCGR)
ENST00000401907.5:c.866+1515_948-2878del (LHCGR)
ENST00000402114.6:c.3441+19338_3441+25421del (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+19338_3441+25421del
ENST00000403273.5:c.866+1515_948-2434del (LHCGR)
ENST00000405626.5:c.866+1515_867-2168del (LHCGR)	ENSP00000386033.1:n.866+1515_867-2168del
ENST00000508440.1:c.276+19338_276+25421del (GTF2A1L)	ENSP00000421474.1:n.276+19338_276+25421del
ENST00000602369.3:c.*139+1515_*220+3207del
NM_000233.3:c.866+1515_948-2168del (LHCGR)
NM_001198593.1:c.3441+19338_3441+25421del (STON1-GTF2A1L)	NP_001185522.1:n.3441+19338_3441+25421del
XM_011532828.1:c.791+1515_873-2168del (LHCGR)
XM_011532829.1:c.606-2796_687-2168del (LHCGR)
XM_011532830.1:c.606-8251_606-2168del (LHCGR)	XP_011531132.1:n.606-8251_606-2168del
XM_011532831.1:c.230+1515_312-2168del (LHCGR)
XM_017004089.1:c.612-2796_693-2168del (LHCGR)
XM_017004090.1:c.230+1515_312-2168del (LHCGR)
NM_000233.4:c.866+1515_948-2168del (LHCGR)
NM_001198593.2:c.3441+19338_3441+25421del (STON1-GTF2A1L)	NP_001185522.1:n.3441+19338_3441+25421del