Canonical Allele Identifier: CA769593288
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI
GTF2A1L HGNC NCBI

Linked Data

dbSNP Id: rs1275963302
gnomAD v4: 2-48725579-AT-A
MyVariant Identifiers: chr2:g.48952719del (hg19) chr2:g.48725580del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48725580del , CM000664.2:g.48725580del GRCh38
NC_000002.11:g.48952719del , CM000664.1:g.48952719del GRCh37
NC_000002.10:g.48806223del NCBI36
NG_008193.1:g.35162del
NG_033050.1:g.200656del
NG_008193.2:g.35162del
NG_033050.2:g.200656del

Transcript Alleles

HGVS Amino-acid change
ENST00000294954.12:c.383+96del (LHCGR) MANE Select ENSP00000294954.6:n.383+96del
ENST00000294954.11:c.383+96del (LHCGR) ENSP00000294954.6:n.383+96del
ENST00000401907.5:c.383+96del (LHCGR) ENSP00000385406.1:n.383+96del
ENST00000402114.6:c.3442-50700del (STON1-GTF2A1L) ENSP00000385701.1:n.3442-50700del
ENST00000403273.5:c.383+96del (LHCGR) ENSP00000385847.1:n.383+96del
ENST00000405626.5:c.383+96del (LHCGR) ENSP00000386033.1:n.383+96del
ENST00000428232.2:c.281+96del (LHCGR) ENSP00000403748.1:n.281+96del
ENST00000508440.1:c.277-7313del (GTF2A1L) ENSP00000421474.1:n.277-7313del
ENST00000602369.3:c.308+96del ENSP00000473498.1:n.308+96del
NM_000233.3:c.383+96del (LHCGR) NP_000224.2:n.383+96del
NM_001198593.1:c.3442-50700del (STON1-GTF2A1L) NP_001185522.1:n.3442-50700del
XM_011532828.1:c.308+96del (LHCGR) XP_011531130.1:n.308+96del
XM_011532829.1:c.308+96del (LHCGR) XP_011531131.1:n.308+96del
XM_011532830.1:c.308+96del (LHCGR) XP_011531132.1:n.308+96del
XM_017004089.1:c.314+96del (LHCGR) XP_016859578.1:n.314+96del
NM_000233.4:c.383+96del (LHCGR) MANE Select NP_000224.2:n.383+96del
NM_001198593.2:c.3442-50700del (STON1-GTF2A1L) NP_001185522.1:n.3442-50700del
Search 100 bp 5'
Search 100 bp 3'