Canonical Allele Identifier: CA1248601299

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688846_48688852delinsATAACTG , CM000664.2:g.48688846_48688852delinsATAACTG	GRCh38
NC_000002.11:g.48915985_48915991delinsATAACTG , CM000664.1:g.48915985_48915991delinsATAACTG	GRCh37
NC_000002.10:g.48769489_48769495delinsATAACTG	NCBI36
NG_008193.1:g.71890_71896delinsCAGTTAT
NG_033050.1:g.163922_163928delinsATAACTG
NG_008193.2:g.71890_71896delinsCAGTTAT
NG_033050.2:g.163922_163928delinsATAACTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.948-3_951delinsCAGTTAT (LHCGR)
ENST00000294954.11:c.948-3_951delinsCAGTTAT (LHCGR)
ENST00000401907.5:c.948-713_948-707delinsCAGTTAT (LHCGR)	ENSP00000385406.1:n.948-713_948-707delinsCAGTTAT
ENST00000402114.6:c.3441+17166_3441+17172delinsATAACTG (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+17166_3441+17172delinsATAACTG
ENST00000403273.5:c.948-269_948-263delinsCAGTTAT (LHCGR)	ENSP00000385847.1:n.948-269_948-263delinsCAGTTAT
ENST00000405626.5:c.867-3_870delinsCAGTTAT (LHCGR)
ENST00000508440.1:c.276+17166_276+17172delinsATAACTG (GTF2A1L)	ENSP00000421474.1:n.276+17166_276+17172delinsATAACTG
ENST00000602369.3:c.*220+5372_*220+5378delinsCAGTTAT	ENSP00000473498.1:n.*220+5372_*220+5378delinsCAGTTAT
NM_000233.3:c.948-3_951delinsCAGTTAT (LHCGR)
NM_001198593.1:c.3441+17166_3441+17172delinsATAACTG (STON1-GTF2A1L)	NP_001185522.1:n.3441+17166_3441+17172delinsATAACTG
XM_005264309.2:c.-10-3_-7delinsCAGTTAT (LHCGR)
XM_006712015.2:c.18-3_21delinsCAGTTAT (LHCGR)
XM_011532828.1:c.873-3_876delinsCAGTTAT (LHCGR)
XM_011532829.1:c.687-3_690delinsCAGTTAT (LHCGR)
XM_011532830.1:c.606-3_609delinsCAGTTAT (LHCGR)
XM_011532831.1:c.312-3_315delinsCAGTTAT (LHCGR)
XM_011532832.1:c.18-3_21delinsCAGTTAT (LHCGR)
XM_011532833.1:c.18-3_21delinsCAGTTAT (LHCGR)
XM_011532834.1:c.-10-3_-7delinsCAGTTAT (LHCGR)
XM_005264309.3:c.-10-3_-7delinsCAGTTAT (LHCGR)
XM_006712015.3:c.18-3_21delinsCAGTTAT (LHCGR)
XM_011532834.2:c.-10-3_-7delinsCAGTTAT (LHCGR)
XM_017004089.1:c.693-3_696delinsCAGTTAT (LHCGR)
XM_017004090.1:c.312-3_315delinsCAGTTAT (LHCGR)
NM_000233.4:c.948-3_951delinsCAGTTAT (LHCGR)
NM_001198593.2:c.3441+17166_3441+17172delinsATAACTG (STON1-GTF2A1L)	NP_001185522.1:n.3441+17166_3441+17172delinsATAACTG