Canonical Allele Identifier: CA505204525
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs1260032788
gnomAD v2: 19-7172393-T-G
gnomAD v4: 19-7172382-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7172382T>G , CM000681.2:g.7172382T>G GRCh38
NC_000019.9:g.7172393T>G , CM000681.1:g.7172393T>G GRCh37
NC_000019.8:g.7123393T>G NCBI36
NG_008852.2:g.126619A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.1176A>C MANE Select ENSP00000303830.4:p.Ser392=
ENST00000302850.9:c.1176A>C ENSP00000303830.4:p.Ser392=
ENST00000341500.9:c.1176A>C ENSP00000342838.4:p.Ser392=
ENST00000598216.1:n.1151A>C
NM_000208.2:c.1176A>C NP_000199.2:p.Ser392=
NM_000208.3:c.1176A>C NP_000199.2:p.Ser392=
NM_001079817.1:c.1176A>C NP_001073285.1:p.Ser392=
NM_001079817.2:c.1176A>C NP_001073285.1:p.Ser392=
XM_011527988.1:c.1254A>C XP_011526290.1:p.Ser418=
XM_011527989.1:c.1254A>C XP_011526291.1:p.Ser418=
XM_011527988.2:c.1176A>C XP_011526290.2:p.Ser392=
XM_011527989.3:c.1176A>C XP_011526291.2:p.Ser392=
NM_000208.4:c.1176A>C MANE Select NP_000199.2:p.Ser392=
NM_001079817.3:c.1176A>C NP_001073285.1:p.Ser392=