Canonical Allele Identifier: CA124248
Gene: INSR HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.7120707C>T
GRCh37 chr19:g.7120718C>T
Revel Score:
ENST00000302850 (MANE Select) 0.862
ENST00000341500 0.862
gnomAD v2:
19:7120718 C / T
gnomAD v3:
19:7120707 C / T
gnomAD v4:
chr19-7120707-C-T
Joint Max Group AF 0.000005 (NFE)
Exomes Max Group AF 0.00000455 (NFE)
ClinVar RCV:
RCV000015815
ClinVar Variation:
14700
dbSNP:
121913150
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7120707C>T , CM000681.2:g.7120707C>T GRCh38
NC_000019.9:g.7120718C>T , CM000681.1:g.7120718C>T GRCh37
NC_000019.8:g.7071718C>T NCBI36
NG_008852.2:g.178294G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.3572G>A MANE Select ENSP00000303830.4:p.Arg1191Gln
ENST00000302850.9:c.3572G>A ENSP00000303830.4:p.Arg1191Gln
ENST00000341500.9:c.3536G>A ENSP00000342838.4:p.Arg1179Gln
ENST00000601099.1:n.483G>A
NM_000208.2:c.3572G>A NP_000199.2:p.Arg1191Gln
NM_000208.3:c.3572G>A NP_000199.2:p.Arg1191Gln
NM_001079817.1:c.3536G>A NP_001073285.1:p.Arg1179Gln
NM_001079817.2:c.3536G>A NP_001073285.1:p.Arg1179Gln
XM_011527988.1:c.3647G>A XP_011526290.1:p.Arg1216Gln
XM_011527989.1:c.3611G>A XP_011526291.1:p.Arg1204Gln
XM_011527988.2:c.3569G>A XP_011526290.2:p.Arg1190Gln
XM_011527989.3:c.3533G>A XP_011526291.2:p.Arg1178Gln
NM_000208.4:c.3572G>A MANE Select NP_000199.2:p.Arg1191Gln
NM_001079817.3:c.3536G>A NP_001073285.1:p.Arg1179Gln
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