Canonical Allele Identifier: CA645509246
Gene: INSR HGNC NCBI

Linked Data

ClinVar Variation Id: 439834
ClinVar RCV Id: RCV000506318

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7128959A>C , CM000681.2:g.7128959A>C GRCh38
NC_000019.9:g.7128970A>C , CM000681.1:g.7128970A>C GRCh37
NC_000019.8:g.7079970A>C NCBI36
NG_008852.2:g.170042T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.2843-5T>G MANE Select ENSP00000303830.4:p.=
ENST00000302850.9:c.2843-5T>G ENSP00000303830.4:p.=
ENST00000341500.9:c.2807-5T>G ENSP00000342838.4:p.=
NM_000208.2:c.2843-5T>G NP_000199.2:p.=
NM_000208.3:c.2843-5T>G NP_000199.2:p.=
NM_001079817.1:c.2807-5T>G NP_001073285.1:p.=
NM_001079817.2:c.2807-5T>G NP_001073285.1:p.=
XM_011527988.1:c.2921-8T>G XP_011526290.1:p.=
XM_011527989.1:c.2885-8T>G XP_011526291.1:p.=
XM_011527988.2:c.2843-8T>G XP_011526290.2:p.=
XM_011527989.3:c.2807-8T>G XP_011526291.2:p.=
NM_000208.4:c.2843-5T>G MANE Select NP_000199.2:p.=
NM_001079817.3:c.2807-5T>G NP_001073285.1:p.=