Canonical Allele Identifier: CA884175004
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs1480130870
gnomAD v3: 19-7117037-C-G
gnomAD v4: 19-7117037-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7117037C>G , CM000681.2:g.7117037C>G GRCh38
NC_000019.9:g.7117048C>G , CM000681.1:g.7117048C>G GRCh37
NC_000019.8:g.7068048C>G NCBI36
NG_008852.2:g.181964G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.*19G>C MANE Select ENSP00000303830.4:n.*19G>C
ENST00000302850.9:c.*19G>C ENSP00000303830.4:n.*19G>C
ENST00000341500.9:c.*19G>C ENSP00000342838.4:n.*19G>C
NM_000208.2:c.*19G>C NP_000199.2:n.*19G>C
NM_000208.3:c.*19G>C NP_000199.2:n.*19G>C
NM_001079817.1:c.*19G>C NP_001073285.1:n.*19G>C
NM_001079817.2:c.*19G>C NP_001073285.1:n.*19G>C
XM_011527988.1:c.*19G>C XP_011526290.1:n.*19G>C
XM_011527989.1:c.*19G>C XP_011526291.1:n.*19G>C
XM_011527988.2:c.*19G>C XP_011526290.2:n.*19G>C
XM_011527989.3:c.*19G>C XP_011526291.2:n.*19G>C
NM_000208.4:c.*19G>C MANE Select NP_000199.2:n.*19G>C
NM_001079817.3:c.*19G>C NP_001073285.1:n.*19G>C