Canonical Allele Identifier: CA993112199
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs1973897008
gnomAD v3: 19-7166609-G-A
gnomAD v4: 19-7166609-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7166609G>A , CM000681.2:g.7166609G>A GRCh38
NC_000019.9:g.7166620G>A , CM000681.1:g.7166620G>A GRCh37
NC_000019.8:g.7117620G>A NCBI36
NG_008852.2:g.132392C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.1611-205C>T MANE Select ENSP00000303830.4:n.1611-205C>T
ENST00000302850.9:c.1611-205C>T ENSP00000303830.4:n.1611-205C>T
ENST00000341500.9:c.1611-205C>T ENSP00000342838.4:n.1611-205C>T
ENST00000598216.1:n.1586-205C>T
ENST00000600492.1:c.12-205C>T ENSP00000473170.1:n.12-205C>T
NM_000208.2:c.1611-205C>T NP_000199.2:n.1611-205C>T
NM_000208.3:c.1611-205C>T NP_000199.2:n.1611-205C>T
NM_001079817.1:c.1611-205C>T NP_001073285.1:n.1611-205C>T
NM_001079817.2:c.1611-205C>T NP_001073285.1:n.1611-205C>T
XM_011527988.1:c.1689-205C>T XP_011526290.1:n.1689-205C>T
XM_011527989.1:c.1689-205C>T XP_011526291.1:n.1689-205C>T
XM_011527988.2:c.1611-205C>T XP_011526290.2:n.1611-205C>T
XM_011527989.3:c.1611-205C>T XP_011526291.2:n.1611-205C>T
NM_000208.4:c.1611-205C>T MANE Select NP_000199.2:n.1611-205C>T
NM_001079817.3:c.1611-205C>T NP_001073285.1:n.1611-205C>T