Canonical Allele Identifier: CA124213
Gene: INSR HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.7170561T>C
GRCh37 chr19:g.7170572T>C
Revel Score:
ENST00000302850 (MANE Select) 0.500
ENST00000341500 0.500
gnomAD v3:
19:7170561 T / C
gnomAD v4:
chr19-7170561-T-C
Joint Max Group AF 2.8e-7 (NFE)
ClinVar RCV:
RCV000015794
ClinVar Variation:
14680
dbSNP:
121913136
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7170561T>C , CM000681.2:g.7170561T>C GRCh38
NC_000019.9:g.7170572T>C , CM000681.1:g.7170572T>C GRCh37
NC_000019.8:g.7121572T>C NCBI36
NG_008852.2:g.128440A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.1459A>G MANE Select ENSP00000303830.4:p.Lys487Glu
ENST00000302850.9:c.1459A>G ENSP00000303830.4:p.Lys487Glu
ENST00000341500.9:c.1459A>G ENSP00000342838.4:p.Lys487Glu
ENST00000598216.1:n.1434A>G
NM_000208.2:c.1459A>G NP_000199.2:p.Lys487Glu
NM_000208.3:c.1459A>G NP_000199.2:p.Lys487Glu
NM_001079817.1:c.1459A>G NP_001073285.1:p.Lys487Glu
NM_001079817.2:c.1459A>G NP_001073285.1:p.Lys487Glu
XM_011527988.1:c.1537A>G XP_011526290.1:p.Lys513Glu
XM_011527989.1:c.1537A>G XP_011526291.1:p.Lys513Glu
XM_011527988.2:c.1459A>G XP_011526290.2:p.Lys487Glu
XM_011527989.3:c.1459A>G XP_011526291.2:p.Lys487Glu
NM_000208.4:c.1459A>G MANE Select NP_000199.2:p.Lys487Glu
NM_001079817.3:c.1459A>G NP_001073285.1:p.Lys487Glu
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