Canonical Allele Identifier: CA658799174
Gene: INSL3 HGNC NCBI

Linked Data

ClinVar Variation Id: 521489
ClinVar RCV Id: RCV000623139
dbSNP Id: rs1187807999
gnomAD v3: 19-17821358-C-CG
gnomAD v4: 19-17821358-C-CG
MyVariant Identifiers: chr19:g.17932168dup (hg19) chr19:g.17932167_17932168insG (hg19) chr19:g.17821359dup (hg38) chr19:g.17821358_17821359insG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17821363dup , CM000681.2:g.17821363dup GRCh38
NC_000019.9:g.17932172dup , CM000681.1:g.17932172dup GRCh37
NC_000019.8:g.17793172dup NCBI36
NG_012092.1:g.5153dup

Transcript Alleles

HGVS Amino-acid change
ENST00000317306.8:c.148dup MANE Select ENSP00000321724.6:p.Arg50ProfsTer16
ENST00000317306.7:c.148dup ENSP00000321724.6:p.Arg50ProfsTer16
ENST00000379695.5:c.148dup ENSP00000369017.4:p.Arg50ProfsTer?
ENST00000598577.1:c.147dup
NM_001265587.1:c.148dup NP_001252516.1:p.Arg50ProfsTer?
NM_005543.3:c.148dup NP_005534.2:p.Arg50ProfsTer16
NM_001265587.2:c.148dup NP_001252516.1:p.Arg50ProfsTer?
NM_005543.4:c.148dup MANE Select NP_005534.2:p.Arg50ProfsTer16
Search 100 bp 5'
Search 100 bp 3'