Canonical Allele Identifier: CA403162512
Gene: INSR HGNC NCBI

Linked Data

ClinVar Variation Id: 2770673
ClinVar RCV Id: RCV003580793
gnomAD v4: 19-7293808-G-C
MyVariant Identifiers: chr19:g.7293819G>C (hg19) chr19:g.7293808G>C (hg38)
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Genomic Alleles

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

Transcript Alleles

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