Canonical Allele Identifier: CA993111687
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs1599934272
gnomAD v3: 19-7165841-T-G
gnomAD v4: 19-7165841-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7165841T>G , CM000681.2:g.7165841T>G GRCh38
NC_000019.9:g.7165852T>G , CM000681.1:g.7165852T>G GRCh37
NC_000019.8:g.7116852T>G NCBI36
NG_008852.2:g.133160A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.1861+313A>C MANE Select ENSP00000303830.4:n.1861+313A>C
ENST00000302850.9:c.1861+313A>C ENSP00000303830.4:n.1861+313A>C
ENST00000341500.9:c.1861+313A>C ENSP00000342838.4:n.1861+313A>C
ENST00000598216.1:n.1836+313A>C
ENST00000600492.1:c.262+313A>C ENSP00000473170.1:n.262+313A>C
NM_000208.2:c.1861+313A>C NP_000199.2:n.1861+313A>C
NM_000208.3:c.1861+313A>C NP_000199.2:n.1861+313A>C
NM_001079817.1:c.1861+313A>C NP_001073285.1:n.1861+313A>C
NM_001079817.2:c.1861+313A>C NP_001073285.1:n.1861+313A>C
XM_011527988.1:c.1939+313A>C XP_011526290.1:n.1939+313A>C
XM_011527989.1:c.1939+313A>C XP_011526291.1:n.1939+313A>C
XM_011527988.2:c.1861+313A>C XP_011526290.2:n.1861+313A>C
XM_011527989.3:c.1861+313A>C XP_011526291.2:n.1861+313A>C
NM_000208.4:c.1861+313A>C MANE Select NP_000199.2:n.1861+313A>C
NM_001079817.3:c.1861+313A>C NP_001073285.1:n.1861+313A>C