Canonical Allele Identifier: CA994097752
Gene: INSL3 HGNC NCBI

Linked Data

dbSNP Id: rs2057076366
gnomAD v3: 19-17818118-G-A
gnomAD v4: 19-17818118-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17818118G>A , CM000681.2:g.17818118G>A GRCh38
NC_000019.9:g.17928927G>A , CM000681.1:g.17928927G>A GRCh37
NC_000019.8:g.17789927G>A NCBI36
NG_012092.1:g.8394C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000317306.8:c.191-1059C>T MANE Select ENSP00000321724.6:n.191-1059C>T
ENST00000317306.7:c.191-1059C>T ENSP00000321724.6:n.191-1059C>T
ENST00000379695.5:c.286-1059C>T ENSP00000369017.4:n.286-1059C>T
ENST00000598577.1:c.190-1037C>T
NM_001265587.1:c.286-1059C>T NP_001252516.1:n.286-1059C>T
NM_005543.3:c.191-1059C>T NP_005534.2:n.191-1059C>T
NM_001265587.2:c.286-1059C>T NP_001252516.1:n.286-1059C>T
NM_005543.4:c.191-1059C>T MANE Select NP_005534.2:n.191-1059C>T
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