Canonical Allele Identifier: CA209132
Gene: INSR HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.7293808G>T
GRCh37 chr19:g.7293819G>T
Revel Score:
ENST00000302850 (MANE Select) 0.105
ENST00000341500 0.105
gnomAD v3:
19:7293808 G / T
gnomAD v4:
chr19-7293808-G-T
Joint Max Group AF 0.00013888 (AFR)
Genomes Max Group AF 0.00013078 (AFR)
Exomes Max Group AF 0.00007801 (AFR)
ClinVar RCV:
RCV000194753
ClinVar Variation:
211199
dbSNP:
755298967
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7293808G>T , CM000681.2:g.7293808G>T GRCh38
NC_000019.9:g.7293819G>T , CM000681.1:g.7293819G>T GRCh37
NC_000019.8:g.7244819G>T NCBI36
NG_008852.2:g.5193C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.84C>A MANE Select ENSP00000303830.4:p.His28Gln
ENST00000302850.9:c.84C>A ENSP00000303830.4:p.His28Gln
ENST00000341500.9:c.84C>A ENSP00000342838.4:p.His28Gln
ENST00000598216.1:n.59C>A
NM_000208.2:c.84C>A NP_000199.2:p.His28Gln
NM_000208.3:c.84C>A NP_000199.2:p.His28Gln
NM_001079817.1:c.84C>A NP_001073285.1:p.His28Gln
NM_001079817.2:c.84C>A NP_001073285.1:p.His28Gln
XM_011527988.2:c.84C>A XP_011526290.2:p.His28Gln
XM_011527989.3:c.84C>A XP_011526291.2:p.His28Gln
NM_000208.4:c.84C>A MANE Select NP_000199.2:p.His28Gln
NM_001079817.3:c.84C>A NP_001073285.1:p.His28Gln
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