Canonical Allele Identifier: CA2320766467
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs369706721
gnomAD v4: 19-7122852-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7122852C>G , CM000681.2:g.7122852C>G GRCh38
NC_000019.9:g.7122863C>G , CM000681.1:g.7122863C>G GRCh37
NC_000019.8:g.7073863C>G NCBI36
NG_008852.2:g.176149G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.3369+27G>C MANE Select ENSP00000303830.4:n.3369+27G>C
ENST00000302850.9:c.3369+27G>C ENSP00000303830.4:n.3369+27G>C
ENST00000341500.9:c.3333+27G>C ENSP00000342838.4:n.3333+27G>C
ENST00000593970.1:n.215+27G>C
ENST00000601099.1:n.280+27G>C
NM_000208.2:c.3369+27G>C NP_000199.2:n.3369+27G>C
NM_000208.3:c.3369+27G>C NP_000199.2:n.3369+27G>C
NM_001079817.1:c.3333+27G>C NP_001073285.1:n.3333+27G>C
NM_001079817.2:c.3333+27G>C NP_001073285.1:n.3333+27G>C
XM_011527988.1:c.3444+27G>C XP_011526290.1:n.3444+27G>C
XM_011527989.1:c.3408+27G>C XP_011526291.1:n.3408+27G>C
XM_011527988.2:c.3366+27G>C XP_011526290.2:n.3366+27G>C
XM_011527989.3:c.3330+27G>C XP_011526291.2:n.3330+27G>C
NM_000208.4:c.3369+27G>C MANE Select NP_000199.2:n.3369+27G>C
NM_001079817.3:c.3333+27G>C NP_001073285.1:n.3333+27G>C