Canonical Allele Identifier: CA304857157
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs537944484
gnomAD v3: 19-7167871-A-G
gnomAD v4: 19-7167871-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7167871A>G , CM000681.2:g.7167871A>G GRCh38
NC_000019.9:g.7167882A>G , CM000681.1:g.7167882A>G GRCh37
NC_000019.8:g.7118882A>G NCBI36
NG_008852.2:g.131130T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.1610+97T>C MANE Select ENSP00000303830.4:n.1610+97T>C
ENST00000302850.9:c.1610+97T>C ENSP00000303830.4:n.1610+97T>C
ENST00000341500.9:c.1610+97T>C ENSP00000342838.4:n.1610+97T>C
ENST00000598216.1:n.1585+97T>C
ENST00000600492.1:c.11+97T>C ENSP00000473170.1:n.11+97T>C
NM_000208.2:c.1610+97T>C NP_000199.2:n.1610+97T>C
NM_000208.3:c.1610+97T>C NP_000199.2:n.1610+97T>C
NM_001079817.1:c.1610+97T>C NP_001073285.1:n.1610+97T>C
NM_001079817.2:c.1610+97T>C NP_001073285.1:n.1610+97T>C
XM_011527988.1:c.1688+97T>C XP_011526290.1:n.1688+97T>C
XM_011527989.1:c.1688+97T>C XP_011526291.1:n.1688+97T>C
XM_011527988.2:c.1610+97T>C XP_011526290.2:n.1610+97T>C
XM_011527989.3:c.1610+97T>C XP_011526291.2:n.1610+97T>C
NM_000208.4:c.1610+97T>C MANE Select NP_000199.2:n.1610+97T>C
NM_001079817.3:c.1610+97T>C NP_001073285.1:n.1610+97T>C