Canonical Allele Identifier: CA124271
Gene: INSR HGNC NCBI

Linked Data

ClinVar Variation Id: 14711
ClinVar RCV Id: RCV000015826
dbSNP Id: rs121913159
gnomAD v2: 19-7267570-G-C
gnomAD v4: 19-7267559-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7267559G>C , CM000681.2:g.7267559G>C GRCh38
NC_000019.9:g.7267570G>C , CM000681.1:g.7267570G>C GRCh37
NC_000019.8:g.7218570G>C NCBI36
NG_008852.2:g.31442C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.438C>G MANE Select ENSP00000303830.4:p.Ile146Met
ENST00000302850.9:c.438C>G ENSP00000303830.4:p.Ile146Met
ENST00000341500.9:c.438C>G ENSP00000342838.4:p.Ile146Met
ENST00000598216.1:n.413C>G
NM_000208.2:c.438C>G NP_000199.2:p.Ile146Met
NM_000208.3:c.438C>G NP_000199.2:p.Ile146Met
NM_001079817.1:c.438C>G NP_001073285.1:p.Ile146Met
NM_001079817.2:c.438C>G NP_001073285.1:p.Ile146Met
XM_011527988.1:c.516C>G XP_011526290.1:p.Ile172Met
XM_011527989.1:c.516C>G XP_011526291.1:p.Ile172Met
XM_011527988.2:c.438C>G XP_011526290.2:p.Ile146Met
XM_011527989.3:c.438C>G XP_011526291.2:p.Ile146Met
NM_000208.4:c.438C>G MANE Select NP_000199.2:p.Ile146Met
NM_001079817.3:c.438C>G NP_001073285.1:p.Ile146Met